September 15, 2016
About the Genomics & Health Impact Weekly Scan
This weekly update features emerging roles of human genomics, testing and interventions in a wide variety of noncommunicable diseases across the life span, including, birth defects, newborn screening, reproductive health, childhood diseases, cancer, chronic diseases, pharmacogenomics, family health history, guidelines and recommendations. The weekly sweep also includes news, reviews, commentaries, tools and databases.
Human Genomics across the Lifespan
Birth Defects and Child Health
- Sickle Cell Data Collection (SCDC) Program
- Public Health Research, Epidemiology, and Surveillance for Hemoglobinopathies (PHRESH)
- FASD Awareness
- Sickle Cell Awareness
- An Update on Fetal Alcohol Syndrome-Pathogenesis, Risks, and Treatment.
Gupta Keshav K et al. Alcoholism, clinical and experimental research 2016 Aug 40(8) 1594-602 - The Genetics of Fetal Alcohol Spectrum Disorders.
Eberhart Johann K et al. Alcoholism, clinical and experimental research 2016 Jun 40(6) 1154-65 - Prevalence of Sickle Cell Trait and Reliability of Self-Reported Status among Expectant Parents in Nigeria: Implications for Targeted Newborn Screening.
Burnham-Marusich Amanda R et al. Public health genomics 2016 Sep 19(5)
Cancer
- Therapeutic and Preventive Implications of Moonshot in Hereditary Cancer Syndromes.
Diab Osama et al. JAMA oncology 2016 Sep - In honor of Ovarian Cancer Awareness Month
G Hurst, Cure today, Sepetember 2016 - Facing my fear: did I have the cancer mutation that killed my dad?
JH Edelestein, The Guardian, September 9, 2016 - Insurers May Insist On Counseling Before Genetic Tests For Breast Cancer
M Andrews, Kaiser Health News, September 13, 2016 - Inactivation of Cancer Mutations Utilizing CRISPR/Cas9.
Gebler Christina et al. Journal of the National Cancer Institute 2017 Jan 109(1) - A 19-Gene expression signature as a predictor of survival in colorectal cancer.
Abdul Aziz Nurul Ainin et al. BMC medical genomics 2016 9(1) 58 - Prognostic significance of performing universal HER2 testing in cases of advanced gastric cancer.
Jiménez-Fonseca Paula et al. Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association 2016 Sep - Bilateral Oophorectomy and Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
Kotsopoulos Joanne et al. Journal of the National Cancer Institute 2017 Jan 109(1) - National Prociency Testing Result of CYP2D6*10 Genotyping for Adjuvant Tamoxifen Therapy in China.
Lin Guigao et al. PloS one 2016 11(9) e0162361 - Prostate Cancer Prevention (PDQ®)–Patient Version
NCI, September 8, 2016 - Increasing Appropriate BRCA1/2 Mutation Testing: The Role of Family History Documentation and Genetic Counseling in a Multidisciplinary Clinic.
Kishan Amar U et al. Annals of surgical oncology 2016 Sep
Chronic Diseases
- Implications of Personal Genomic Testing for Health Behaviors: The Case of Smoking.
Olfson Emily et al. Nicotine & tobacco research : official journal of the Society for Research on Nicotine and Tobacco 2016 Jul - A microRNA plays role in major depression,
Science, September 9, 2016 - Early Childhood Environment and Genetic Interactions: the Diathesis for Suicidal Behavior.
Brodsky Beth S et al. Current psychiatry reports 2016 Sep 18(9) 86
Ethics, Policy and Law
- Privacy: The myth of anonymity.
Savage Neil et al. Nature 2016 537(7619) S70-2 - Ethical issues in pediatric genetic testing and screening.
Botkin Jeffrey R et al. Current opinion in pediatrics 2016 Sep - Ethical issues in the evaluation of adults with suspected genetic neuromuscular disorders.
Su Xiaowei et al. Muscle & nerve 2016 Sep
Genomics in Practice
- A special Nature Outlook Supplement on Precision Medicine
Nature Outlook, September 2016 - NHS England sets out its vision for personalised medicine,
by Rebecca Bazeley, PHG Foundation, September 8, 2016 - Americans are keen to take part in a national precision medicine program
E Dishman, STat News, September 8, 2016 - Big Data in Health: a Literature Review from the Year 2005.
de la Torre Díez Isabel et al. Journal of medical systems 2016 Sep 40(9) 209 - Precision public health: a conversation
Ron Zimmern, PHG Foundation, September 12, 2016 - The impact of personal genomics on risk perceptions and medical decision-making.
Krieger Joshua L et al. Nature biotechnology 2016 Sep 34(9) 912-8 - Let the Individuals Directly Concerned Decide: A Solution to Tragic Choices in Genetic Risk Information.
Oliveri Serena et al. Public health genomics 2016 Sep 19(5) - Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing.
Balmaña Judith et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2016 Sep
Cardiovascular Diseases
- Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci.
Liu Chunyu et al. Nature genetics 2016 Sep - Cardiometabolic Disease: Big Data Tackles a Big Health Problem
Francis Collins, NIH Director Blog, September 8, 2016 - Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.
Surendran Praveen et al. Nature genetics 2016 Sep
Newborn Screening
- A secondary benefit: the reproductive impact of carrier results from newborn screening for cystic fibrosis.
Bombard Yvonne et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Sep - Lab Quality Program Important to Newborn Screening
Reproductive Health
- Prenatal and pre-implantation genetic diagnosis
JR Vermeesch et al, Nature Rev Genetics, September 2016 - A survey on awareness of genetic counseling for non-invasive prenatal testing: the first year experience in Japan.
Yotsumoto Junko et al. Journal of human genetics 2016 Sep - Prenatal Carrier Screening for Spinal Muscular Atrophy.
Wood S Lindsay et al. American journal of perinatology 2016 Sep - 'It made you think twice' - an interview study of women's perception of a web-based decision aid concerning screening and diagnostic testing for fetal anomalies.
Åhman Annika et al. BMC pregnancy and childbirth 2016 16267
News/Reviews/Commentaries
- Applications of CRISPR technologies in research and beyond.
Barrangou Rodolphe, Doudna Jennifer A Nature biotechnology 2016 9 0. 933-941.
.png)
No hay comentarios:
Publicar un comentario