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Breast Cancer Prognosis in BRCA1 and BRCA2 Muta... [J Clin Oncol. 2012] - PubMed - NCBI

2012-01-29T07:51:00.000-08:00

J Clin Oncol. 2012 Jan 1;30(1):19-26. Epub 2011 Dec 5.
Breast Cancer Prognosis in BRCA1 and BRCA2 Mutation Carriers: An International Prospective Breast Cancer Family Registry Population-Based Cohort Study.
Goodwin PJ, Phillips KA, West DW, Ennis M, Hopper JL, John EM, O'Malley FP, Milne RL, Andrulis IL, Friedlander ML, Southey MC, Apicella C, Giles GG, Longacre TA.
SourceMSc, Mount Sinai Hospital, 1284-600 University Ave, Toronto, Ontario M5G 1X4; pgoodwin@mtsinai.on.ca.

Abstract
PURPOSE To compare breast cancer prognosis in BRCA1 and BRCA2 mutation carriers with that in patients with sporadic disease. PATIENTS AND METHODS An international population-based cohort study was conducted in Canada, the United States, and Australia of 3,220 women with incident breast cancer diagnosed between 1995 and 2000 and observed prospectively. Ninety-three had BRCA1 mutations; 71, BRCA2 mutations; one, both mutations; 1,550, sporadic breast cancer; and 1,505, familial breast cancer (without known BRCA1 or BRCA2 mutation). Distant recurrence and death were analyzed. Results Mean age at diagnosis was 45.3 years; mean follow-up was 7.9 years. Risks of distant recurrence and death did not differ significantly between BRCA1 mutation carriers and those with sporadic disease in univariable and multivariable analyses. Risk of distant recurrence was higher for BRCA2 mutation carriers compared with those with sporadic disease in univariable analysis (hazard ratio [HR], 1.63; 95% CI, 1.02 to 2.60; P = .04). Risk of death was also higher in BRCA2 carriers in univariable analysis (HR, 1.81; 95% CI, 1.15 to 2.86; P = .01). After adjustment for age, tumor stage and grade, nodal status, hormone receptors, and year of diagnosis, no differences were observed for distant recurrence (HR, 1.00; 95% CI, 0.62 to 1.61; P = 1.00) or death (HR, 1.12; 95% CI, 0.70 to 1.79; P = .64). CONCLUSION Outcomes of BRCA1 mutation carriers were similar to those of patients with sporadic breast cancer. Worse outcomes in BRCA2 mutation carriers in univariable analysis seem to reflect the presence of more adverse tumor characteristics in these carriers. Similar outcomes were identified in BRCA2 carriers and those with sporadic disease in multivariable analyses.
PMID:22147742[PubMed - in process]
Breast Cancer Prognosis in BRCA1 and BRCA2 Muta... [J Clin Oncol. 2012] - PubMed - NCBI

Association Between BRCA1 and BRCA2 Mutations and Survival in Women With Invasive Epithelial Ovarian Cancer, January 25, 2012, Bolton et al. 307 (4): 382 — JAMA

2012-01-29T07:49:00.000-08:00

Association Between BRCA1 and BRCA2 Mutations and Survival in Women With Invasive Epithelial Ovarian Cancer

Kelly L. Bolton, PhD;
Georgia Chenevix- Trench, PhD;
Cindy Goh, BA;
Siegal Sadetzki, MD, MPH;
Susan J. Ramus, PhD;
Beth Y. Karlan, MD;
Diether Lambrechts, PhD;
Evelyn Despierre, MD;
Daniel Barrowdale, BSc;
Lesley McGuffog;
Sue Healey, BSc;
Douglas F. Easton, PhD;
Olga Sinilnikova, PhD;
Javier Benítez, PhD;
María J. García, PhD;
Susan Neuhausen, PhD;
Mitchell H. Gail, MD, PhD;
Patricia Hartge, ScD;
Susan Peock, PhD;
Debra Frost, ONC;
D. Gareth Evans, MBBS, MRCP, MD, FRCP;
Rosalind Eeles, PhD, MA, FRCP, FRCR;
Andrew K. Godwin, PhD;
Mary B. Daly, MD, PhD;
Ava Kwong, MBBS, FRCS;
Edmond S. K. Ma, MD;
Conxi Lázaro, PhD;
Ignacio Blanco, MD, PhD;
Marco Montagna, PhD;
Emma D'Andrea, MD, PhD;
Maria Ornella Nicoletto, MD;
Sharon E. Johnatty, PhD;
Susanne Krüger Kjær, MD, DMSc;
Allan Jensen, PhD;
Estrid Høgdall, PhD;
Ellen L. Goode, PhD;
Brooke L. Fridley, PhD;
Jennifer T. Loud, DNP;
Mark H. Greene, MD;
Phuong L. Mai, MD;
Angela Chetrit, MSc;
Flora Lubin, MSc;
Galit Hirsh-Yechezkel, PhD;
Gord Glendon, MSc;
Irene L. Andrulis, PhD;
Amanda E. Toland, PhD;
Leigha Senter, MS;
Martin E. Gore, MBBS, PhD, FRCP;
Charlie Gourley, PhD, FRCP;
Caroline O. Michie, MD;
Honglin Song, PhD;
Jonathan Tyrer, PhD;
Alice S. Whittemore, PhD;
Valerie McGuire, PhD;
Weiva Sieh, MD, PhD;
Ulf Kristoffersson, MD, PhD;
Håkan Olsson, MD, PhD;
Åke Borg, PhD;
Douglas A. Levine, MD;
Linda Steele, BS;
Mary S. Beattie, MD, MAS;
Salina Chan, BSc;
Robert L. Nussbaum, MD;
Kirsten B. Moysich, PhD;
Jenny Gross, MPH;
Ilana Cass, MD;
Christine Walsh, MD;
Andrew J. Li, MD;
Ronald Leuchter, MD;
Ora Gordon, MD, MS;
Montserrat Garcia-Closas, MD, DrPH;
Simon A. Gayther, PhD;
Stephen J. Chanock, MD;
Antonis C. Antoniou, PhD;
Paul D. P. Pharoah, BM, BCh, PhD
for the EMBRACE, kConFab Investigators, and The Cancer Genome Atlas Research Network

[+] Author Affiliations

Author Affiliations: Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland (Drs Bolton, Gail, Chanock, and Hartge); David Geffen School of Medicine, University of California, Los Angeles (Dr Bolton); Queensland Institute of Medical Research, Royal Brisbane Hospital, Herston, Australia (Drs Chenevix-Trench and Johnatty and Ms Healey); Addenbrooke's Hospital, Cambridge, England (Ms Goh); Gertner Institute for Epidemiology and Health Policy Research, Sheba Medical Center, Tel Hashomer, Israel (Drs Sadetzki and Hirsh-Yechezkel and Mss Chetrit and Lubin); Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel (Dr Sadetzki); Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles (Drs Ramus and Gayther); Women's Cancer Program, Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California (Drs Karlan, Cass, Walsh, Li, Leuchter, and Gordon and Ms Gross); VIB Vesalius Research Center, University of Leuven, Leuven, Belgium (Dr Lambrechts); Department of Obstetrics and Gynaecology, University Hospitals Leuven, University of Leuven, Leuven, Belgium (Dr Despierre); Center for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, England (Drs Easton, Peock, and Antoniou and Mr Barrowdale and Mss McGuffog and Frost); Unit of Genetic Predisposition to Common Cancers, Hospices Civils de Lyon−Center Léon Bérard, Lyon, and INSERM U1052, CNRS UMR5286, University Lyon 1, Cancer Research Center of Lyon, Lyon, France (Dr Sinilnikova); Human Genetics Group (Dr García), Human Cancer Genetics Program and Genotyping Unit, Spanish National Cancer Research Center (Dr Benítez), and CIBERER (Drs Benítez and García), Madrid, Spain; Department of Population Sciences, Beckman Research Institute of the City of Hope, Duarte, California (Dr Neuhausen and Ms Steele); Genetic Medicine, Manchester Academic Health Sciences Center, Central Manchester University Hospitals NHS Foundation Trust, Manchester, England (Dr Evans); Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, Sutton, Surrey, United Kingdom (Dr Eeles); Department of Pathology and Laboratory Medicine, University of Kansas Medical Center, Kansas City (Dr Godwin); Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, Pennsylvania (Dr Daly); The Hong Kong Hereditary Breast Cancer Family Registry, Cancer Genetics Center (Drs Kwong and Ma), and Division of Molecular Pathology (Dr Ma), Hong Kong Sanatorium and Hospital, Central Block, Hong Kong; Division of Breast Surgery, University of Hong Kong, Queen Mary Hospital, Hong Kong (Dr Kwong); Hereditary Cancer Program, Catalan Institute of Oncology, L’Hospitalet, Barcelona, Spain (Drs Lázaro and Blanco); Immunology and Molecular Oncology Unit (Dr Montagna) and Medical Oncology Unit 1 (Dr Nicoletto), Istituto Oncologico Veneto IRCCS, Padua, Italy; Department of Oncology and Surgical Sciences, Istituto Oncologico Veneto IOV - IRCCS, Padua, Italy (Dr D’Andrea); Department of Virus, Hormones, and Cancer, Danish Cancer Society, and Department of Gynecology, Rigshospitalet, University of Copenhagen (Drs Kjær, Jensen, and Høgdall), Copenhagen, Denmark; Department of Health Sciences Research, Mayo Clinic College of Medicine, Rochester, Minnesota (Drs Goode and Fridley); Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland (Drs Loud, Greene, and Mai); Ontario Cancer Genetics Network, Cancer Care Ontario (Dr Andrulis and Mr Glendon), and Samuel Lunenfeld Research Institute, Mount Sinai Hospital (Dr Andrulis), Toronto, Ontario, Canada; Departments of Internal Medicine and Molecular Virology, Immunology, and Medical Genetics, The Comprehensive Cancer Center, Ohio State University, Columbus (Dr Toland); Clinical Cancer Genetics Program, Department of Internal Medicine, The Comprehensive Cancer Center, Ohio State University, Columbus (Ms Senter); Gynecological Oncology Unit, The Royal Marsden Hospital, London, England (Dr Gore); University of Edinburgh Cancer Research Center, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, Scotland (Drs Gourley and Michie); Cancer Research United Kingdom, Departments of Oncology and Public Health and Primary Care, University of Cambridge, Strangeway's Research Laboratory, Cambridge, England (Drs Song, Tyrer, and Pharoah); Department of Health Research and Policy, Stanford University School of Medicine, Stanford, California (Drs Whittemore, McGuire, and Sieh); Department of Clinical Genetics, University and Regional Laboratories Skåne and Lund University, Lund, Sweden (Dr Kristoffersson); Department of Oncology, Lund University, Lund, Sweden (Drs Olsson and Borg); Department of Surgery, Memorial Sloan-Kettering Cancer Center, New York, New York (Dr Levine); University of California San Francisco Cancer Risk Program, San Francisco (Drs Beattie and Nussbaum and Ms Chan); Department of Medicine, University of California, San Francisco (Drs Beattie and Nussbaum); Department of Cancer Prevention and Control, Roswell Park Cancer Institute, Buffalo, New York (Dr Moysich); and Sections of Epidemiology and Genetics, Institute of Cancer Research and Breakthrough Breast Cancer Research Center, London, England (Dr Garcia-Closas).

Abstract

Context Approximately 10% of women with invasive epithelial ovarian cancer (EOC) carry deleterious germline mutations in BRCA1 or BRCA2. A recent article suggested that BRCA2 -related EOC was associated with an improved prognosis, but the effect of BRCA1 remains unclear.

Objective To characterize the survival of BRCA carriers with EOC compared with noncarriers and to determine whether BRCA1 and BRCA2 carriers show similar survival patterns.

Design, Setting, and Participants A pooled analysis of 26 observational studies on the survival of women with ovarian cancer, which included data from 1213 EOC cases with pathogenic germline mutations in BRCA1 (n = 909) or BRCA2 (n = 304) and from 2666 noncarriers recruited and followed up at variable times between 1987 and 2010 (the median year of diagnosis was 1998).

Main Outcome Measure Five-year overall mortality.

Results The 5-year overall survival was 36% (95% CI, 34%-38%) for noncarriers, 44% (95% CI, 40%-48%) for BRCA1 carriers, and 52% (95% CI, 46%-58%) for BRCA2 carriers. After adjusting for study and year of diagnosis, BRCA1 and BRCA2 mutation carriers showed a more favorable survival than noncarriers (for BRCA1: hazard ratio [HR], 0.78; 95% CI, 0.68-0.89; P < .001; and for BRCA2: HR, 0.61; 95% CI, 0.50-0.76; P < .001). These survival differences remained after additional adjustment for stage, grade, histology, and age at diagnosis (for BRCA1: HR, 0.73; 95% CI, 0.64-0.84; P < .001; and for BRCA2: HR, 0.49; 95% CI, 0.39-0.61; P < .001). The BRCA1 HR estimate was significantly different from the HR estimated in the adjusted model (P for heterogeneity = .003).

Conclusion Among patients with invasive EOC, having a germline mutation in BRCA1 or BRCA2 was associated with improved 5-year overall survival. BRCA2 carriers had the best prognosis.

KEYWORDS:

Association Between BRCA1 and BRCA2 Mutations and Survival in Women With Invasive Epithelial Ovarian Cancer, January 25, 2012, Bolton et al. 307 (4): 382 — JAMA

Articles citing this article

Unwrapping the Implications of BRCA1 and BRCA2 Mutations in Ovarian Cancer JAMA. 2012;307(4):408-410.
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Genetic variation increases risk of metabolic side effects in children on some antipsychotics

2012-01-29T07:47:00.000-08:00

Contact: Jennifer Kohm
jkohm@cfri.ca
604-875-2401
Child & Family Research Institute

Genetic variation increases risk of metabolic side effects in children on some antipsychotics

Associated with increased blood pressure and elevated blood sugar levels

Researchers have found a genetic variation predisposing children to six-times greater risk of developing metabolic syndrome when taking second-generation anti-psychotic medications. Metabolic syndrome is a cluster of conditions that are risk factors for cardiovascular disease. The study showed a close association with two conditions in particular: high blood pressure and elevated fasting blood sugar levels, which is a precursor to diabetes. The research is published today in the medical research journal Translational Psychiatry.

"This is the first report of an underlying biological factor predisposing children to complications associated with second-generation anti-psychotic medication use," says Dr Dina Panagiotopoulos, study co-author, clinician scientist at the Child & Family Research Institute (CFRI), pediatric endocrinologist at BC Children's Hospital, and assistant professor, Department of Pediatrics, University of British Columbia (UBC).

"It's concerning because these children take medications to treat a chronic disease – mental illness – and then develop risk factors for a second chronic disease," says Dr. Angela Devlin, study co-author, CFRI scientist and assistant professor in the UBC Department of Pediatrics.

Second-generation anti-psychotics are prescribed to approximately 5500 children and youth in British Columbia for psychotic disorders, mood and anxiety disorders, attention deficit hyperactivity disorder, autism spectrum disorders, adjustment disorders and substance abuse. Of these medications, the two most commonly prescribed in B.C. are quetiapine (Seroquel®) and risperidone (Risperdal®).

For the study, researchers assessed 209 children who were inpatients between April 2008 and June 2011 at the Child & Adolescent Psychiatry Department at BC Children's Hospital, an agency of the Provincial Health Services Authority. Their average age was 13 years, and 105 of the children were treated with second-generation anti-psychotics while 112 did not use these drugs. DNA analysis showed that eight per cent of children from both groups had a genetic variation called C677T on the MTHFR gene. Children with the MTHFR C677T variant who used these medications were six-times more likely to have metabolic syndrome.

The researchers targeted the MTHFR C677T variant because it is known to be associated with metabolic syndrome in adults who have schizophrenia, and with cardiovascular disease in adults who don't have psychiatric illness.

Dr. Devlin and Dr. Panagiotopoulos say their discovery is an important step to preventing and managing metabolic complications associated with second-generation antipsychotic medications. It is critical to reduce these risks in childhood because adults with mental illness have a 19 per cent increased mortality rate that is largely due to cardiovascular disease risk.

The MTHFR gene is involved in metabolizing the B-vitamin folate.

"We now plan to assess B vitamin status and dietary intake in children who take these medications to gain a better understanding of this association," says Dr. Panagiotopoulos.

###
This study was funded by CFRI and the Canadian Diabetes Association.

Dr. Panagiotopoulos's previous research on the metabolic side effects of anti-psychotics in children led to national recommendations for clinicians on monitoring and managing the care of children who take these medications. The recommendations were published in the Journal of the Canadian Academy of Child and Adolescent Psychiatry in August 2011 and in Pediatrics and Child Health in November 2011.

CFRI conducts discovery, clinical and applied research to benefit the health of children and families. It is the largest institute of its kind in Western Canada. CFRI works in close partnership with UBC; BC Children's Hospital and Sunny Hill Health Centre for Children, BC Women's Hospital & Health Centre, agencies of PHSA; and BC Children's Hospital Foundation. CFRI has additional important relationships with British Columbia's (B.C.'s) five regional health authorities and with B.C. academic institutions Simon Fraser University, the University of Victoria, the University of Northern British Columbia, and the British Columbia Institute of Technology. For more information, visit http://www.cfri.ca/.

BC Children's Hospital, an agency of the Provincial Health Services Authority, provides expert care for the province's most seriously ill or injured children, including newborns and adolescents. BC Children's is an academic health centre affiliated with the University of British Columbia, Simon Fraser University, and the Child & Family Research Institute. For more information, please visit http://www.bcchildrens.ca/.

UBC is one of Canada's largest and most prestigious public research and teaching institutions, and one of only two Canadian institutions to be consistently ranked among the world's 40 best universities. Surrounded by the beauty of the Canadian West, it is a place that inspires bold, new ways of thinking that have helped make it a national leader in areas as diverse as community service learning, sustainability and research commercialization. UBC attracts $550 million per year in research funding from government, non-profit organizations and industry through 7,000 grants. For more information, visit http://www.ubc.ca/.

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Genetic variation increases risk of metabolic side effects in children on some antipsychotics

Translational Psychiatry - Abstract of article: Cardiometabolic risk and the MTHFR C677T variant in children treated with second-generation antipsychotics

2012-01-29T07:42:00.000-08:00

Published online 24 January 2012

Cardiometabolic risk and the MTHFR C677T variant in children treated with second-generation antipsychotics

A M Devlin¹, Y F Ngai¹, R Ronsley¹ and C Panagiotopoulos¹

¹Department of Pediatrics, University of British Columbia, Child and Family Research Institute, Vancouver, Canada

Correspondence: Dr AM Devlin, Department of Pediatrics, University of British Columbia, Child and Family Research Institute, 272-950 West 28th Ave, Vancouver V6K 4A9, Canada. E-mail: adevlin@cfri.ubc.ca; Dr C Panagiotopoulos, Department of Pediatrics, University of British Columbia, Endocrinology and Diabetes Unit, British Columbia Children's Hospital, 4480 Oak St, ACB K4-213, Vancouver, V6H 3V4, Canada. E-mail: dpanagiotopoulos@cw.bc.ca

Received 8 November 2011; Revised 9 December 2011; Accepted 11 December 2011

Top

Abstract

Second-generation antipsychotics (SGAs) are increasingly being used to treat children with a variety of psychiatric illnesses. Metabolic syndrome (MetS), a risk factor for cardiovascular disease, is a side-effect of SGA-treatment. We conducted a cross-sectional study and assessed the association of the methylenetetrahydrofolate reductase (MTHFR) C677T variant with features of MetS in SGA-treated (n=105) and SGA–naïve (n=112) children. We targeted the MTHFR C677T variant, because it is associated with risk for cardiovascular disease, and features of MetS in adults without psychiatric illness. MetS in children is based on the presence of any three of the following: waist circumference 90th percentile for age and sex; plasma triglyceride 1.24 mmol l⁻¹; plasma high-density lipoprotein-cholesterol 1.03 mmol l⁻¹; systolic or diastolic blood pressure 90th percentile for age, sex, and height; and fasting glucose 5.6 mmol l⁻¹. We found that 15% of SGA-treated children had MetS compared with 2% of SGA-naïve children (OR 8.113, P<0.05). No effect of the MTHFR C677T variant on psychiatric diagnosis was observed. The MTHFR 677T allele was associated (P<0.05) with MetS (OR 5.75, 95% CI= 1.18–28.12) in SGA-treated children. Models adjusted for duration of SGA treatment, ethnicity, sex, age and use of other medications revealed a positive relationship between the MTHFR 677T allele and diastolic blood pressure Z-scores (P=0.001) and fasting plasma glucose (P<0.05) in SGA-treated children. These findings illustrate the high prevalence of MetS in SGA-treated children and suggest metabolic alterations associated with the MTHFR C677T variant may have a role in the development of MetS features in SGA-treated children.

Translational Psychiatry - Abstract of article: Cardiometabolic risk and the MTHFR C677T variant in children treated with second-generation antipsychotics

PHG Foundation | Genes may help brains age better

2012-01-29T07:41:00.000-08:00

Genes may help brains age better

24 January 2012 | By Rebecca Bazeley | News story

Sources: Wall Street Journal, Nature

Taking advantage of an unusual database, researchers have been able to estimate the influence genes have on changes in our cognitive ability over a lifetime.

The database holds results of intelligence tests taken by a cohort of over 65 year olds in Scotland. What makes the database special is that it also holds results from intelligence tests sat by the same participants as children, providing a rare insight into cognitive change over a lifetime.

Analysis of the DNA provided by participants alongside the intelligence test results shows genes may influence 24% of changes in our intellectual performance as we age. While the environment asserts a greater influence, genes may help some brains age better than others.

The findings come with a health warning – the sample size is too small to provide statistical significance. However, the Scottish study gives points to avenues worthy of further exploration once data from larger long-term studies, such as the UK National Survey of Health and Development, become available.

PHG Foundation Genes may help brains age better

Genetic contributions to stability and change in inte... [Nature. 2012] - PubMed - NCBI

2012-01-29T07:40:00.000-08:00

Nature. 2012 Jan 18. doi: 10.1038/nature10781. [Epub ahead of print]

Genetic contributions to stability and change in intelligence from childhood to old age.

Source

1] Department of Psychology, University of Edinburgh, 7 George Square, Edinburgh EH8 9JZ, UK [2] Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, 7 George Square, Edinburgh EH8 9JZ, UK [3].

Abstract

Understanding the determinants of healthy mental ageing is a priority for society today. So far, we know that intelligence differences show high stability from childhood to old age and there are estimates of the genetic contribution to intelligence at different ages. However, attempts to discover whether genetic causes contribute to differences in cognitive ageing have been relatively uninformative. Here we provide an estimate of the genetic and environmental contributions to stability and change in intelligence across most of the human lifetime. We used genome-wide single nucleotide polymorphism (SNP) data from 1,940 unrelated individuals whose intelligence was measured in childhood (age 11 years) and again in old age (age 65, 70 or 79 years). We use a statistical method that allows genetic (co)variance to be estimated from SNP data on unrelated individuals. We estimate that causal genetic variants in linkage disequilibrium with common SNPs account for 0.24 of the variation in cognitive ability change from childhood to old age. Using bivariate analysis, we estimate a genetic correlation between intelligence at age 11 years and in old age of 0.62. These estimates, derived from rarely available data on lifetime cognitive measures, warrant the search for genetic causes of cognitive stability and change.

PMID:: 22258510; [PubMed - as supplied by publisher]

Genetic contributions to stability and change in inte... [Nature. 2012] - PubMed - NCBI

Rare and common variants: twenty arguments. [Nat Rev Genet. 2012] - PubMed - NCBI

2012-01-29T07:38:00.000-08:00

Nat Rev Genet. 2012 Jan 18;13(2):135-45. doi: 10.1038/nrg3118.

Rare and common variants: twenty arguments.

Gibson G.

Source

School of Biology and Center for Integrative Genomics, 770 State Street, Georgia Institute of Technology, Atlanta, Georgia 30332, USA.

Abstract

Genome-wide association studies have greatly improved our understanding of the genetic basis of disease risk. The fact that they tend not to identify more than a fraction of the specific causal loci has led to divergence of opinion over whether most of the variance is hidden as numerous rare variants of large effect or as common variants of very small effect. Here I review 20 arguments for and against each of these models of the genetic basis of complex traits and conclude that both classes of effect can be readily reconciled.

PMID:: 22251874; [PubMed - in process]

Rare and common variants: twenty arguments. [Nat Rev Genet. 2012] - PubMed - NCBI

Racial and Ethnic Differences in Direct-to-Con... [J Genet Couns. 2012] - PubMed - NCBI

2012-01-29T07:37:00.000-08:00

J Genet Couns. 2012 Jan 21. [Epub ahead of print]

Racial and Ethnic Differences in Direct-to-Consumer Genetic Tests Awareness in HINTS 2007: Sociodemographic and Numeracy Correlates.

Langford AT, Resnicow K, Roberts JS, Zikmund-Fisher BJ.

Source

Department of Health Behavior & Health Education, University of Michigan School of Public Health, 1415 Washington Heights, SPH I Building, Room 3867, Ann Arbor, MI, 48109, USA, alangfor@umich.edu .

Abstract

To examine the association of 1) race/ethnicity and 2) numeracy with awareness of DTC genetic tests. Secondary analysis of 6,754 Hispanic, black, and white adult respondents to the National Cancer Institute's 2007 Health Information National Trends Survey (HINTS). Logistic regression was used to examine sociodemographic predictors of DTC genetic tests awareness including race/ethnicity, income, education, and gender. Next, two numeracy variables were added to the model. After controlling for sociodemographic variables, black respondents were significantly less likely to have heard of DTC genetic tests compared to white respondents (OR = 0.79; CI: 0.65-0.97). When numeracy variables were added to the model, the effect of black race was no longer significant (OR = 0.84; CI: 0.69-1.04). Hispanic respondents did not significantly differ from white respondents in awareness of DTC genetic tests. Other significant correlates of DTC genetic tests awareness in the full model included education, income, age, and numeracy variables including degree to which people use medical statistics and numbers to make health decisions, and preference for words or numbers when discussing "the chance of something happening." Although black respondents were generally less aware of DTC genetic tests than white respondents, this relationship appears to be partially mediated by numeracy.

PMID:: 22271378; [PubMed - as supplied by publisher]

Racial and Ethnic Differences in Direct-to-Con... [J Genet Couns. 2012] - PubMed - NCBI

Offering aggregate results to participants in geno... [Genet Med. 2012] - PubMed - NCBI

2012-01-29T07:35:00.000-08:00

Genet Med. 2012 Jan 26. doi: 10.1038/gim.2011.62. [Epub ahead of print]

Offering aggregate results to participants in genomic research: opportunities and challenges.

Beskow LM, Burke W, Fullerton SM, Sharp RR.

Source

Center for Genome Ethics, Law, and Policy, Duke Institute for Genome Sciences and Policy, Durham, North Carolina, USA.

Abstract

Although issues involved in offering individual results to participants in genomic research have received considerable attention, communication of aggregate results has been the subject of relatively little ethical analysis. Offering participants aggregate results is typically assumed to be a good thing, and studies have found that a significant majority of biobank research participants, when asked about their interest in aggregate results, say that access to such information would be important. Even so, return of aggregate results remains a relatively uncommon practice. In this article, we explore the opportunities involved in communicating aggregate results to participants in genomic research, including affirming the value of research participation, informing participants about research being conducted based on broad consent for future unspecified research, educating participants and the public about the research process, and building trust in the research enterprise. We also explore some of the challenges, including the complex intersection between individual and aggregate results, as well as practical hurdles. We conclude by offering our preliminary recommendations concerning the provision of aggregate results and an agenda for much-needed future research.Genet Med advance online publication 26 January 2012.

PMID:: 22261761; [PubMed - as supplied by publisher]

Offering aggregate results to participants in geno... [Genet Med. 2012] - PubMed - NCBI

Effect of genetic testing for risk of ty... [BMC Health Serv Res. 2012] - PubMed - NCBI

2012-01-29T07:34:00.000-08:00

BMC Health Serv Res. 2012 Jan 18;12(1):16. [Epub ahead of print]

Effect of genetic testing for risk of type 2 diabetes mellitus on health behaviors and outcomes: Study rationale, development, and design.

Cho AH, Killeya-Jones LA, O'Daniel JM, Kawamoto K, Gallagher P, Haga S, Lucas JE, Trujillo GM, Joy SV, Ginsburg GS.

Abstract

ABSTRACT:

BACKGROUND:

Type 2 diabetes is a prevalent chronic condition globally that results in extensive morbidity, decreased quality of life, and increased health services utilization. Lifestyle changes can prevent the development of diabetes, but require patient engagement. Genetic risk testing might represent a new tool to increase patients' motivation for lifestyle changes. Here we describe the rationale, development, and design of a randomized controlled trial (RCT) assessing the clinical and personal utility of incorporating type 2 diabetes genetic risk testing into comprehensive diabetes risk assessments performed in a primary care setting.

METHODS:

Patients are recruited in the laboratory waiting areas of two primary care clinics and enrolled into one of three study arms. Those interested in genetic risk testing are randomized to receive either a standard risk assessment (SRA) for type 2 diabetes incorporating conventional risk factors plus upfront disclosure of the results of genetic risk testing ("SRA+G" arm), or the SRA alone ("SRA" arm). Participants not interested in genetic risk testing will not receive the test, but will receive SRA (forming a third, "no-test" arm). Risk counseling is provided by clinic staff (not study staff external to the clinic). Fasting plasma glucose, insulin levels, body mass index (BMI), and waist circumference are measured at baseline and 12 months, as are patients' self-reported behavioral and emotional responses to diabetes risk information. Primary outcomes are changes in insulin resistance and BMI after 12 months; secondary outcomes include changes in diet patterns, physical activity, waist circumference, and perceived risk of developing diabetes.

DISCUSSION:

The utility, feasibility, and efficacy of providing patients with genetic risk information for common chronic diseases in primary care remain unknown. The study described here will help to establish whether providing type 2 diabetes genetic risk information in a primary care setting can help improve patients' clinical outcomes, risk perceptions, and/or their engagement in healthy behavior change. In addition, study design features such as the use of existing clinic personnel for risk counseling could inform the future development and implementation of care models for the use of individual genetic risk information in primary care. Trial Registration ClinicalTrials.gov NCT00849563.

PMID:: 22257365; [PubMed - as supplied by publisher]

Free full text

Effect of genetic testing for risk of ty... [BMC Health Serv Res. 2012] - PubMed - NCBI

Knowledge of Pharmacists Regarding Pharmacogenetic Testing: Abstract and Introduction

2012-01-29T07:28:00.000-08:00

From Personalized Medicine

Knowledge, Attitudes and Education of Pharmacists Regarding Pharmacogenetic Testing

Mary W Roederer; Marcia Van Riper; John Valgus; George Knafl; Howard McLeod

Authors and Disclosures

Abstract and Introduction

Abstract

Aim: Pharmacists are positioned to provide medication counseling and drug information to patients. This study assessed the knowledge, attitudes and education of over 700 pharmacists concerning pharmacogenetics and pharmacogenetic testing.
Methods: A multiquestion, online survey was developed to assess healthcare provider knowledge, attitudes and education concerning pharmacogenetic testing.
Results: More than 90% of pharmacists were interested in learning more about pharmacogenetics and testing, with those with less than 10 years of experience were more likely to want web-based continuing education programs. The pharmacists were unlikely to have had formalized education regarding pharmacogenetics, were very likely to rate their knowledge accurately, and were more likely to have a positive attitude about pharmacogenetics if they had received education regarding pharmacogenetics.
Conclusion: Most pharmacists were interested in learning more about pharmacogenetic testing.

Introduction

Pharmacists know that one dose does not always fit all. Just as pharmacokinetics helps to find the right dose of gentamicin or vancomycin for a patient, pharmacogenetics is the study of how heritable traits affect an individual's response to a medication. Pharmacogenetic testing utilizes the results of genetic tests to guide a patient's drug therapy, much like renal function and drug levels guide pharmacokinetic dosing of selected drugs.
With adverse drug reactions costing hundreds of thousands of US dollars and drugs causing the desired effect in only a subset of those prescribed the drug, any and all scientific advances that decrease the toxicity or improve the efficacy of prescribed medications is beneficial.^[1–3] Pharmacists, as the chemists of the healthcare team and the drug therapy experts, are poised to take the lead in providing patients and prescribers with the information essential to optimizing pharmacotherapy for treatment and control of diseases and conditions. Pharmacogenetics can be a powerful tool to aid in refining a drug dose or prioritizing one drug over another for a patient. In fact the US FDA requires inclusion of pharmacogenetic information in over 100 drug labels, approximately 10% of all drug labels up to 2005.^[4] Of the drugs reviewed by a major pharmacy benefits manager (PBM; n = 36.1 million patients), approximately 25% of the patients filled prescriptions for drugs with a mention of pharmacogenetics in the drug label.^[4] Astoundingly, pharmacists may see one in four patients fill prescriptions for drugs that have human genomic information in the drug label.
Warfarin is one drug with pharmacogenetic information included in the drug label. Warfarin is metabolized by the polymorphic CYP2C9 enzyme, among other drug-metabolizing enzymes, and targets VKORC1 for drug action. The warfarin drug label states that CYP2C9 and VKORC1 genotype can assist in selecting a starting dose of warfarin and provides a table with a range of doses for each combination of genotype information.^[101] The dosing recommendations based on genotype were added to the drug label for warfarin after studies found that genetic differences in CYP2C9 and VKORC1 affect the dose of warfarin required to achieve the desired therapeutic effect, generally an international normalized ratio of 2–3, or to avoid untoward effects such as bleeding.^[5,6] Ultimately an algorithm that integrates clinical dosing criteria and pharmacogenetics data was established and tested.^[7] The pharmacogenetically enhanced algorithm performed better than the clinical algorithm in selecting the therapeutic dose.^[7]
Few studies exist that evaluate the knowledge of pharmacists related to pharmacogenetics. In one study by Kadafour et al., healthcare professionals providing anticoagulation services were surveyed regarding warfarin pharmacogenetic testing. The majority of respondents were pharmacists (63.9%) providing anticoagulation services for more than 5 years (62.2%). However, over 80% (80.1%) did not have pharmacogenetic testing available at their practice site. From the five questions assessing knowledge of pharmacogenetic testing associated with warfarin anticoagulation, on average respondents scored 2 out of 5. Respondents with testing available at their practice site scored significantly higher with a score of 3 out of 5 (p = 0.03 by Wilcoxon-rank sum test).^[8]
In terms of attitudes regarding pharmacogenetics among pharmacists and other healthcare professionals, our current understanding is very limited. This is unfortunate given that there are likely to be ethical, legal and social implications of the routine use of pharmacogenetics. These include concerns regarding privacy, confidentiality, informed consent, cost, equity of access to treatments that may be more expensive, genetic testing in minors, duty to warn of potential risk for adverse drug reactions, and inappropriate marketing of race-based medications.^[9,10] Moreover, the implementation of pharmacogenetics in clinical practice is highly dependent upon acceptance of pharmacogenetics among pharmacists and other healthcare professionals.
One of the few existing studies concerning attitudes about pharmacogenetics is a study by Rogausch and colleagues.^[11] Findings from this study suggest that attitudes and concerns regarding pharmacogenetics often differ between patients and physicians. They found that while patients were primarily concerned with privacy issues and adverse treatment by employers or insurance companies, physicians were concerned that employers or insurance companies might pressure patients into pharmacogenetic testing and patients might be disadvantaged if test results indicated a need for higher doses of a drug. In the study by Kadafour and colleagues, over 35% of the participants agreed that warfarin pharmacogenetic testing will help to more accurately determine initial warfarin dose, 32% agreed that warfarin pharmacogenetic testing will help achieve therapeutic international normalized ratio more quickly and 26% agreed that warfarin pharmacogenetic testing will decrease the incidence of bleeding adverse events.^[8] An increasing number of drugs have a response that is linked to genetic differences in drug metabolizing enzymes, drug transporters or drug targets. Pharmacists are positioned in communities and in health systems where they may be presented with a patient prescribed a medication that requires at least an understanding of pharmacogenetic principles to address the relationships between genetics and metabolizing enzymes, transporters or drug targets.
Certainly, the call to action by the International Society of Pharmacogenomics that was reported in a paper by Gurwitz et al. in 2005 highlighted the need for pharmacogenomics education for medical, pharmaceutical and other health professionals schools.^[12] From the studies on pharmacy education, Latif et al. found that 78% of 41 schools provided pharmacogenomics education, however, only 39% of the doctor of pharmacy programs included this education.^[13] By 2010, Murphy et al. found that 92% of schools provided educational content on pharmacogenomics, with 89% providing content within the clinical degree program or doctor of pharmacy program.^[14]
The purpose of this article is to share select findings from a larger study concerning knowledge and attitudes regarding pharmacogenetic testing among healthcare professionals. For this article, the focus is limited to the responses of pharmacists from North Carolina, USA.

Section 1 of 5

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Knowledge of Pharmacists Regarding Pharmacogenetic Testing: Abstract and Introduction

Consolidating newborn screening efforts in... [J Community Genet. 2012] - PubMed - NCBI

2012-01-29T07:25:00.000-08:00

J Community Genet. 2012 Jan 21. [Epub ahead of print]

Consolidating newborn screening efforts in the Asia Pacific region : Networking and shared education.

Padilla CD, Therrell BL Jr; on behalf of the Working Group of the Asia Pacific Society for Human Genetics on Consolidating Newborn Screening Efforts in the Asia Pacific Region.

Source

Department of Pediatrics, College of Medicine, University of the Philippines Manila, Manila, Philippines, cdpadilla@post.upm.edu.ph .

Abstract

Many of the countries in the Asia Pacific Region, particularly those with depressed and developing economies, are just initiating newborn screening programs for selected metabolic and other congenital disorders. The cultural, geographic, language, and economic differences that exist throughout the region add to the challenges of developing sustainable newborn screening systems. There are currently more developing programs than developed programs within the region. Newborn screening activities in the Asia Pacific Region are particularly important since births there account for approximately half of the world's births. To date, there have been two workshops to facilitate formation of the Asia Pacific Newborn Screening Collaboratives. The 1st Workshop on Consolidating Newborn Screening Efforts in the Asia Pacific Region occurred in Cebu, Philippines, on March 30-April 1, 2008, as a satellite meeting to the 7th Asia Pacific Conference on Human Genetics. The second workshop was held on June 4-5, 2010, in Manila, Philippines. Workshop participants included key policy-makers, service providers, researchers, and consumer advocates from 11 countries with 50% or less newborn screening coverage. Expert lectures included experiences in the United States and the Netherlands, international quality assurance activities and ongoing and potential research activities. Additional meeting support was provided by the U.S. National Institutes of Health, the Centers for Disease Control and Prevention, the U.S. National Newborn Screening and Genetics Resource Center, the International Society for Neonatal Screening, and the March of Dimes. As part of both meeting activities, participants shared individual experiences in program implementation with formal updates of screening information for each country. This report reviews the activities and country reports from two Workshops on Consolidating Newborn Screening Efforts in the Asia Pacific Region with emphasis on the second workshop. It also updates the literature on screening activities and implementation/expansion challenges in the participating countries.

PMID:: 22271560; [PubMed - as supplied by publisher]

Consolidating newborn screening efforts in... [J Community Genet. 2012] - PubMed - NCBI

The Use of a Family History Risk Assessment To... [J Genet Couns. 2012] - PubMed - NCBI

2012-01-29T07:24:00.000-08:00

J Genet Couns. 2012 Jan 21. [Epub ahead of print]

The Use of a Family History Risk Assessment Tool within a Community Health Care System: Views of Primary Care Providers.

Christianson CA, Powell KP, Hahn SE, Blanton SH, Bogacik J, Henrich VC; The Genomedical Connection.

Source

The Center for Biotechnology, Genomics and Health Research, The University of North Carolina at Greensboro, Greensboro, NC, USA, c_chris3@uncg.edu .

Abstract

Primary care providers (PCPs) offered input regarding the incorporation of a family health history (FHH) risk assessment tool into a community health care system (CHCS). Sixteen PCPs participated in one of three focus groups. Perceived impediments included the lack of standard screening guidelines, effective screening tests, genetic counseling resources, and services for high-risk patients. The PCPs were concerned about their level of expertise, the cost of preventive health care, and genetic discrimination. They also were concerned about the use of a FHH tool by oncologists within the CHCS because of communication gaps between oncologists and PCPs, lack of clarity regarding follow-up and legal liability, and reimbursement issues. To integrate a FHH tool into a CHCS, PCPs will need consultation and referral services, evidence-based recommendations, and "just-in-time" educational resources. Oncologists who use the tool will need to develop a streamlined communication system with PCPs, establish clearly defined roles, and ensure patient follow-up.

PMID:: 22271379; [PubMed - as supplied by publisher]

The Use of a Family History Risk Assessment To... [J Genet Couns. 2012] - PubMed - NCBI

Health beliefs among individuals at ... [Diabetes Res Clin Pract. 2012] - PubMed - NCBI

2012-01-29T07:23:00.000-08:00

Diabetes Res Clin Pract. 2012 Jan 16. [Epub ahead of print]

Health beliefs among individuals at increased familial risk for type 2 diabetes: Implications for prevention.

Dorman JS, Valdez R, Liu T, Wang C, Rubinstein WS, O'Neill SM, Acheson LS, Ruffin MT 4th, Khoury MJ.

Source

Department of Health, Promotion and Development, School of Nursing, University of Pittsburgh, Pittsburgh, PA, United States.

Abstract

AIM:

To evaluate perceived risk, control, worry, and severity about diabetes, coronary heart disease (CHD) and stroke among individuals at increased familial risk of diabetes.

METHODS:

Data analyses were based on the Family Healthware™ Impact Trial. Baseline health beliefs were compared across three groups: (1) no family history of diabetes, CHD or stroke (n=836), (2) family history of diabetes alone (n=267), and (3) family history of diabetes and CHD and/or stroke (n=978).

RESULTS:

After adjusting for age, gender, race, education and BMI, scores for perceived risk for diabetes (p<0.0001), CHD (p<0.0001) and stroke (p<0.0001) were lowest in Group 1 and highest in Group 3. Similar results were observed about worry for diabetes (p<0.0001), CHD (p<0.0001) and stroke (p<0.0001). Perceptions of control or severity for diabetes, CHD or stroke did not vary across the three groups.

CONCLUSIONS:

Among individuals at increased familial risk for diabetes, having family members affected with CHD and/or stroke significantly influenced perceived risk and worry. Tailored lifestyle interventions for this group that assess health beliefs and emphasize approaches for preventing diabetes, as well as its vascular complications, may be an effective strategy for reducing the global burden of these serious but related chronic disorders.
Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

PMID:: 22257420; [PubMed - as supplied by publisher]

Health beliefs among individuals at ... [Diabetes Res Clin Pract. 2012] - PubMed - NCBI

Impact of Colon Cancer Screening on Family Hist... [Epidemiology. 2012] - PubMed - NCBI

2012-01-29T07:21:00.000-08:00

Epidemiology. 2012 Jan 16. [Epub ahead of print]

Impact of Colon Cancer Screening on Family History Phenotype.

Newcomb PA, Savu A, Phipps AI, Coghill AE, Yasui Y.

Source

From the aPublic Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA; bCarbone Comprehensive Cancer Center, University of Wisconsin, Madison, WI; cDepartment of Epidemiology, School of Public Health, University of Washington, Seattle, WA; and dDepartment of Public Health Sciences, School of Public Health, University of Alberta, Edmonton, Alberta, Canada.

Abstract

BACKGROUND:

If effective cancer screening is more common in people with a family history of cancer, the relationship between family history and cancer incidence may become distorted.

METHODS:

To assess the impact of screening on the association between colorectal cancer family history and risk of colorectal cancer, we developed a model to simulate screening patterns in those with and without a family history.

RESULTS:

The introduction of screening reduces the apparent risk of colorectal cancer associated with family history in subsequent generations. This reduction becomes more pronounced as the difference in the uptake of screening between those with a family history and those without becomes larger.

CONCLUSION:

A result of effective screening is that observed family history of colorectal cancer may no longer match inherited risk, and observed family history may fail to be a strong risk factor. This may have implications for exposure-disease relationships if screening is differentially associated with the exposure.

PMID:: 22252410; [PubMed - as supplied by publisher]

Impact of Colon Cancer Screening on Family Hist... [Epidemiology. 2012] - PubMed - NCBI

EGAPP|Meetings and Conferences|Announcement

2012-01-29T07:20:00.000-08:00

The 23^rdMeeting of the EGAPP Working Group will be held in Atlanta on January 30-31st, 2012. The Working Group will be welcoming four new members: Dr. Jonathan Berg, Dr. Cecile Janssens, Dr. Marc Williams, and Dr. Doris Zallen.
**More at www.egappreviews.org**

EGAPPMeetings and ConferencesAnnouncement

Microarray application in prenatal... [Ultrasound Obstet Gynecol. 2012] - PubMed - NCBI

2012-01-29T07:18:00.000-08:00

Ultrasound Obstet Gynecol. 2012 Jan 20. doi: 10.1002/uog.11092. [Epub ahead of print]

Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011.

Source

Mendel Laboratory, Casa Sollievo della Sofferenza Hospital, IRCCS, San Giovanni Rotondo, Italy. a.novelli@css-mendel.it .

Abstract

OBJECTIVES:

At present, a precise guideline establishing chromosome microarray analysis (CMA) applications and platforms in the prenatal setting does not exist. The actual controversial question is whether CMA technologies can or should shortly replace the standard karyotype in prenatal diagnosis practice.

METHODS:

Based on review of the recent literature and actual knowledge and experiences of all participants, the SIGU Committee proposes recommendations for the use of CMA in prenatal testing.

RESULTS:

Dataset collections reported in the medical literature clearly show a significant incidence of pathogenic CNVs at 6.4% in the group of pregnancies with ultrasound fetal abnormalities and normal karyotype and the detected CNVs are more likely to have a relevant role in terms of nosology for the fetus and for the assessment of reproductive risks for the couples. The estimation of the frequencies of variations of unclear significance (VOUS) varies depending on the different CMA platforms used spanning from targeted arrays, for which a 0-4% frequency of VOUS has been reported, to high resolution whole genome SNP arrays for which the estimated incidence of VOUS was of 9-12%.

CONCLUSIONS:

Presently CMA analysis can be considered a second-tier diagnostic test to be used after a standard karyotype in selected group of pregnancies, such as those with single (apparently isolated) or multiple US fetal abnormalities, with de novo chromosomal rearrangements, even if apparently balanced, and those with supernumerary marker chromosomes. Copyright © 2012 ISUOG. Published by John Wiley & Sons, Ltd.
Copyright © 2012 ISUOG. Published by John Wiley & Sons, Ltd.

PMID:: 22262341; [PubMed - as supplied by publisher]

Microarray application in prenatal... [Ultrasound Obstet Gynecol. 2012] - PubMed - NCBI

European Journal of Human Genetics - Clinical utility gene card for: Werner syndrome

2012-01-29T07:16:00.000-08:00

Clinical Utility Gene Card
European Journal of Human Genetics advance online publication 18 January 2012; doi: 10.1038/ejhg.2011.265

Clinical utility gene card for: Werner syndrome
Fuki M Hisama1, Christian Kubisch2, George M Martin3 and Junko Oshima3
1Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA
2Institute of Human Genetics, University of Ulm, Ulm, Germany
3Department of Pathology, University of Washington, Seattle, WA, USA
Correspondence: Dr FM Hisama, Division of Medical Genetics, Department of Medicine, University of Washington, Box 357720, 1959 NE Pacific St., Seattle, WA 98195, USA. Tel: +1 206 598 4030; Fax: +1 206 598 3269; E-mail: fmh2@u.washington.edu

Top of page1. DISEASE CHARACTERISTICS
1.1 Name of the disease (synonyms)
Werner syndrome, Werner's syndrome, adult-onset progeria.

1.2 OMIM# of the disease
277700.

1.3 Name of the analysed genes or DNA/chromosome segments
WRN (RECQL2, RECQ3).

1.4 OMIM# of the gene(s)
604611.

full-text:
European Journal of Human Genetics - Clinical utility gene card for: Werner syndrome

AIDS 2012 Plenary Speakers Announced | blog.aids.gov

2012-01-29T07:01:00.000-08:00

AIDS 2012 Plenary Speakers Announced blog.aids.gov

AIDS 2012 Plenary Speakers Announced

Leave a comment HIV Policy & Programs January 27, 2012

By Gregorio Millett, M.P.H., CDC/HHS Liaison to the Office of National AIDS Policy

Gregorio Millett

Today’s announcement (PDF 215KB) of plenary speakers is a clear indication of how AIDS 2012 is shaping up to be one of the strongest International AIDS Conferences yet, with 15 world-renowned experts tapped to speak on a range of key issues related to the global and U.S. response to AIDS. Under the plenary theme of Ending the Epidemic: Turning the Tide, Monday’s panel will feature a presentation by NIAID Director Dr. Anthony S. Fauci entitled, “Ending the HIV Epidemic: From Scientific Advances to Public Health Implementation.” On the same panel, Black AIDS Institute Executive Director and Presidential Advisory Council on HIV/AIDS member Phill Wilson will deliver remarks entitled, “The U.S. Epidemic”, and Dr. Sheila Tlou , Director of UNAIDS’ Regional Support Team for East and Southern Africa will speak to “Turning the Tide in Affected Countries: Leadership, Accountability and Targets.”
Complete details regarding all 15 plenary speakers and daily conference themes is available on the conference website at http://www.aids2012.org/ . Please visit their site for more information about what to expect at this biennial event that is expected to bring over 25,000 participants to Washington, DC from July 22-27th. Stay tuned to this blog for additional details about the USG’s role in AIDS 2012.
Related posts:

HealthyChildren.org - Overview of Infectious Diseases

2012-01-29T06:58:00.000-08:00

full-text:
HealthyChildren.org - Overview of Infectious Diseases

http://www.jointcommission.org/assets/1/18/Infection_Control_Brochure.pdf

Overview of Infectious Diseases

Infectious diseases are illnesses caused by germs (microbes). It is important to realize that not all germs (bacteria, viruses, fungi, and parasites) cause disease. In fact, a host of bacteria normally live on the skin, eyelids, nose, and mouth and in the gut. These bacteria are called normal flora and are considered normal inhabitants. These normal flora are helpful to us! The bacteria in our bowels break down foods and form vitamin K, an essential vitamin for all of us. The normal bacteria on our skin and in our mouths protect us by preventing or decreasing the chance that we will become infected with harmful bacteria and fungi.
The normal balance of bacteria can be upset by antibiotics and some illnesses. Viral infections often damage body surfaces and set the stage for infection by harmful bacteria.
Frequently, bacteria are present on a body surface such as the nose or throat or in the bowels, but there is no illness. This is called carriage of the bacteria, and the person with the bacteria is called a carrier. There is no illness in the carrier, but the carrier sometimes can transmit or spread the bacteria to another person. Many of the bacteria that are carried can cause infection and illness.
It is not always clear why the same strains of bacteria cause carriage in one child, mild illness in another, and serious infection in others. Sometimes it is because of factors in the child or the bacteria, but often doctors don’t understand the reasons.
Some important factors in the child include age, immunity, nutrition, genetic makeup, and general health. Newborns are at risk because their protective systems are not yet tested and are not always mature. Infants are at risk because they tend to put everything into their mouths and rarely clean their hands. Older children are less at risk because their hygiene is better and they have become immune through prior infection or carriage of bacteria.
Another important factor for a child is the use of medical devices such as catheters (tubes placed in blood vessels or into the bladder) and other tubes (e.g., from the nose to the stomach, from the nose to the lungs). These catheters and tubes provide a direct path for bacteria and fungi to get into the blood, bladder, or lungs. Medicines such as corticosteroids (used in asthma and many other conditions) and cancer chemotherapy can interfere with a child’s ability to fight infection. Even antibacterials can be a factor by killing the normal protective flora.
Factors in bacteria, viruses, and fungi include genes that determine how harmful (virulent) the microbe can be. Some germs make toxins that cause illness by themselves or contribute to infections caused by the germ. Examples include enterotoxins, which cause diarrhea; tetanus toxin, which causes lock jaw; and toxic shock toxin, which leads to low blood pressure and collapse (shock).
Infections are a normal part of childhood. Most children will have at least 6 to 8 respiratory (breathing tract) infections each year. These include colds, ear infections, sinus infections, bronchitis, and pneumonia. Infections of the bowels also are common.
When children gather together in child care settings and school, there is the opportunity for infections to spread from one child to another.
Not all infections are contagious (able to spread from person to person). Ear and bladder infections are not spread from child to child, while diarrhea and colds are easily spread.
The incubation period is the time it takes after a child is infected until he becomes ill. Sometimes the incubation is short (e.g., a day or so for the flu), while other times it is quite long (eg, 2 weeks for chickenpox and many years for human immunodeficiency virus [HIV]). In some cases, a person is contagious during the incubation period, while in others the person is not contagious until the illness begins. The amount of time a child remains contagious depends on the infection and the child. Young children are often contagious for longer than older children.
Infections are sometimes so mild that there are few or no symptoms. Other infections cause more severe illness. Infections cause harm by damaging a person’s body parts (cells and organs) and causing inflammation. Inflammation is one way a child protects himself from infection. Inflammation usually destroys the infecting agent. Unfortunately, inflammation can be harmful to the child as well. Inflammation can harm organs, cause pain, and interfere with normal body functions.
Many infections come and go with no harm to the child. Others cause pain and, sometimes, death. Some infections resolve, but leave a child with organ damage. While many germs come and go, some germs stay with your child even after the illness resolves. For example, herpesviruses (herpes simplex, cytomegalovirus, Epstein Barr virus, varicella, and human herpesvirus 6 and 7) remain in your child for a lifetime. If your child gets chickenpox, that virus stays inside his nerve cells after the rash and illness go away. The virus can reappear later in life as shingles (herpes zoster).

Germs and Children: TerminologyThe World of Microbes

normal flora	Bacteria that live on or in a child
pathogen	A germ that can cause a disease
colonization	Presence of a germ in or on you without disease.
infection	A germ causing an illness. Your body will react by making antibodies
intoxication	Illness due to a toxin made by a germ
latent infection	A germ (most often a virus) in a resting state
reactivation	The latent germ wakes up and reproduces
carrier	A child who is colonized but not sick
contagious	Able to spread the illness
incubation.	Time between infection and symptoms

prions	Infectious proteins. The smallest known infectious agents
viruses	Very small. Viruses take over your cells to reproduce themselves
bacteria	Two types: free-living, normal inhabitants (normal flora); pathogens that produce disease
fungi	Molds and yeasts. Fungi colonize (live on or in a child) and are pathogens
parasites	Forms range from single cells (amoeba, protozoa) to worms

Last Updated: 1/9/2012

Ventricular Fibrillation

2012-01-29T06:54:00.000-08:00

full-text:
Ventricular Fibrillation

Atrial Fibrillation Medications

Ventricular fibrillation is life-threatening
Ventricular fibrillation (v-fib for short) is the most serious cardiac rhythm disturbance. The lower chambers quiver and the heart can't pump any blood, causing cardiac arrest.How it worksThe heart's electrical activity becomes disordered. When this happens, the heart's lower (pumping) chambers contract in a rapid, unsynchronized way. (The ventricles "flutter" rather than beat.) The heart pumps little or no blood. Collapse and sudden cardiac arrest follows -- this is a medical emergency!

Signs of cardiac arrest

Sudden loss of responsiveness (no response to tapping on shoulders)
No normal breathing (the victim does not take a normal breath when you tilt the head up and check for at least five seconds)
This is sudden cardiac arrest (SCA) -- which requires immediate medical help (CPR and defibrillation)!

Treatment for cardiac arrest caused by ventricular fibrillation
Ventricular fibrillation can be stopped with a defibrillator, which gives an electrical shock to the heart. If you see someone experiencing the signs of cardiac arrest:

Tell someone to call 9-1-1 and get an automated external defibrillator (AED) if one is available. You begin CPR immediately.
If you are alone with an adult who has these signs of cardiac arrest, call 9-1-1 and get an AED (if one is available) before you begin CPR.
Use an AED as soon as it arrives.
Continue CPR until trained emergency medical help arrives.

Learn more about defibrillation

Reducing risk of ventricular fibrillation

Arrhythmia medications may help control rhythm disturbances.
Implantable cardioverter defibrillators (ICDs) can correct life-threatening rhythms in high-risk patients.

Food Allergy Initiative

2012-01-29T06:49:00.000-08:00

full-contents:
Food Allergy Initiative

Prinzmetal's Angina, Variant Angina and Angina Inversa

2012-01-29T06:46:00.000-08:00

full-contents:
Prinzmetal's Angina, Variant Angina and Angina Inversa

Unlike typical angina – which is often triggered by exertion or emotional stress - Prinzmetal’s angina almost always occurs when a person is at rest, usually between midnight and early morning. These attacks can be very painful.

Other names for this kind of angina include variant angina, Prinzmetal's variant angina and angina inversa. Pinzmetal’s angina is rare, representing about two out of 100 cases of angina, and usually occurs in younger patients than those who have other kinds of angina.

The pain is caused by a spasm in the heart’s arteries that provide the blood supply to the heart muscle (e.g., coronary arteries). Triggers can include exposure to cold, emotional stress, smoking, cocaine use, and medications that cause the heart’s coronary arteries to narrow. For some people, this pain could also be an indication of a blocked coronary artery.

How is variant angina or Prinzmetal's angina treated?
Medicines can help control the spasms. Drugs such as calcium antagonists and nitrates are the mainstays of treatment. If there’s blockage, an angioplasty or other surgical procedure may be needed.

The spasms tend to come in cycles – appearing for a time, then going away. After six to 12 months of treatment, doctors may gradually reduce the medication.

The prognosis is generally good, but Prinzmetal's angina is considered to be a chronic condition that will need to be followed by your doctor.

Thyroid disease fact sheet | womenshealth.gov

2012-01-29T06:41:00.000-08:00

Thyroid disease fact sheet womenshealth.gov

Graves' disease fact sheet | womenshealth.gov

http://www.womenshealth.gov/publications/our-publications/second-opinion-how-to.pdf

New York Thyroid Center: Thyroid Disease in Pregnancy and Fertility

Pregnancy and Thyroid Disease Page - National Endocrine and Metabolic Diseases Information Service

What Women Want to Know

Highlights from the womenshealth.gov information and referral center

A woman wrote to us after having her thyroid gland removed due to Graves’ disease. She wondered how the treatment for Graves’ disease would affect her ability to get pregnant and have a healthy pregnancy. We sent her information on Graves' disease, like its symptoms, diagnosis, and treatment. We also sent her information on pregnancy and Graves’ disease. We strongly suggested she follow up with her doctor about her concerns. We also reminded her that if she wasn’t comfortable with her doctor's recommendations, it is wise to get a second opinion.

Thyroid Disease Fact Sheet
Graves' Disease Fact Sheet
How to Get a Second Opinion
Pregnancy and Thyroid Disease

Interview with a Thyroid Cancer Survivor: Joan Shey | womenshealth.gov

2012-01-29T06:34:00.000-08:00

full-text:
Interview with a Thyroid Cancer Survivor: Joan Shey womenshealth.gov

Interview with a Thyroid Cancer Survivor: Joan Shey

Chances are, you don’t give too much thought to your thyroid on a daily basis. Joan Shey didn’t, either, until she was diagnosed with thyroid cancer. She survived the cancer, and then started the Light of Life Foundation to educate people about thyroid cancer. Learn more about your thyroid and how it affects your health.

Joan Shey

Inside the interview

Joan Shey has been a thyroid cancer survivor for 17 years. In 1997, while in recovery from her thyroid surgery and radiation treatments, Joan created the Light of Life Foundation for thyroid cancer patients to create a support and education network that was not available at the time of her diagnosis. She asked the doctors who saved her life to join her mission. Together, they began distributing gift baskets to patients in isolation, organized support groups, held informational seminars, and sold merchandise to fuel awareness and raise funds for thyroid cancer research. Under Joan’s direction, the foundation, an independent 501(c)(3), has grown into a national and international network of patients and physicians who are bringing attention to the importance of this disease.

In addition, Joan supports a fellowship program in thyroid cancer at Memorial Sloan-Kettering Cancer Center and now has added the University of Pennsylvania Medical Center to the funding program. She also created a Light of Life Facebook support group.

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Abstract

Effect of genetic testing for risk of ty... [BMC Health Serv Res. 2012] - PubMed - NCBI

Effect of genetic testing for risk of type 2 diabetes mellitus on health behaviors and outcomes: Study rationale, development, and design.

Abstract

BACKGROUND:

METHODS:

DISCUSSION:

Knowledge of Pharmacists Regarding Pharmacogenetic Testing: Abstract and Introduction

From Personalized Medicine

Knowledge, Attitudes and Education of Pharmacists Regarding Pharmacogenetic Testing

Abstract and Introduction

Abstract

Introduction

Consolidating newborn screening efforts in... [J Community Genet. 2012] - PubMed - NCBI

Consolidating newborn screening efforts in the Asia Pacific region : Networking and shared education.

Source

Abstract

The Use of a Family History Risk Assessment To... [J Genet Couns. 2012] - PubMed - NCBI

The Use of a Family History Risk Assessment Tool within a Community Health Care System: Views of Primary Care Providers.

Source

Abstract

Health beliefs among individuals at ... [Diabetes Res Clin Pract. 2012] - PubMed - NCBI

Health beliefs among individuals at increased familial risk for type 2 diabetes: Implications for prevention.

Source

Abstract

AIM:

METHODS:

RESULTS:

CONCLUSIONS:

Impact of Colon Cancer Screening on Family Hist... [Epidemiology. 2012] - PubMed - NCBI

Impact of Colon Cancer Screening on Family History Phenotype.

Source

Abstract

BACKGROUND:

METHODS:

RESULTS:

CONCLUSION:

EGAPP|Meetings and Conferences|Announcement

Microarray application in prenatal... [Ultrasound Obstet Gynecol. 2012] - PubMed - NCBI

Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011.

Source

Abstract

OBJECTIVES:

METHODS:

RESULTS:

CONCLUSIONS:

European Journal of Human Genetics - Clinical utility gene card for: Werner syndrome

AIDS 2012 Plenary Speakers Announced | blog.aids.gov

AIDS 2012 Plenary Speakers Announced

HealthyChildren.org - Overview of Infectious Diseases

Overview of Infectious Diseases

Germs and Children: TerminologyThe World of Microbes