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
- [Children's hearing behavior observations and high risk individual genetic screening for late-onset hearing loss early detection and intervention exploring a basic-level hospitals model].
Guo Yilian et al. Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery 2015 Sep 29(18) 1618-21
Cancer
- Impact of the 12-Gene Colon Cancer Assay on Clinical Decision Making for Adjuvant Therapy in Stage II Colon Cancer Patients.
Brenner Baruch et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2016 Jan 19(1) 82-7 - Selecting Patients with Ovarian Cancer for Germline BRCA Mutation Testing: Findings from Guidelines and a Systematic Literature Review.
Eccles Diana M et al. Advances in therapy 2016 Jan - Targeted next-generation sequencing of 22 mismatch repair genes identifies Lynch syndrome families.
Talseth-Palmer Bente A et al. Cancer medicine 2016 Jan - Genetic testing for hereditary cancer predisposition: BRCA1/2, lynch syndrome, and beyond.
Hall M J et al. Gynecologic oncology 2016 Jan - Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care.
Thompson Ella R et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2016 Jan - Perceptions of Cancer Risk, Cause, and Needs in Participants from Low Socioeconomic Background at Risk for Hereditary Cancer.
Underhill Meghan L et al. Behavioral medicine (Washington, D.C.) 2016 Jan 0 - A two-stage approach to genetic risk assessment in primary care.
Biswas Swati et al. Breast cancer research and treatment 2016 Jan - Participant views on consent in cancer genetics research: preparing for the precision medicine era.
Edwards Karen L et al. Journal of community genetics 2016 Jan - Breast Cancer in Young Women: Research Priorities. A Report of the Young Survival Coalition Research Think Tank Meeting.
Korde Larissa A et al. Journal of adolescent and young adult oncology 2015 Mar 4(1) 34-43 - Family history of breast cancer and its association with disease severity and mortality.
Melvin Jennifer C et al. Cancer medicine 2016 Jan - No lung cancer left behind
Anish Thomas Science Translational Medicine 27 Jan 2016
Ethics, Policy and Law
- WHAT ROLE SHOULD PUBLIC OPINION PLAY IN ETHICO-LEGAL DECISION MAKING? THE EXAMPLE OF SELECTING SEX FOR NON-MEDICAL REASONS USING PREIMPLANTATION GENETIC DIAGNOSIS.
Fovargue Sara et al. Medical law review 2016 Jan - Ethical and Societal Questions Loom Large as Gene Editing Moves Closer to the Clinic
Hampton T JAMA 2016 Jan 25 - Attitudes toward medical and genetic confidentiality in the Saudi research biobank: An exploratory survey.
Alahmad Ghiath et al. International journal of medical informatics 2016 Mar 8784-90 - Genetic counseling and testing for hereditary cancer risk in young adult women: Facilitating autonomy and informed decision making is key.
Peshkin Beth N et al. Gynecologic oncology reports 2015 Nov 1444-5 - In response to Peshkin et al. "Genetic counseling and testing for hereditary cancer risk in young adult women: Facilitating autonomy and informed decision making is key".
Powell C Bethan et al. Gynecologic oncology reports 2015 Nov 1446
Genomics in Practice
- The Information Technology Infrastructure for the Translational Genomics Core and the Partners Biobank at Partners Personalized Medicine.
Boutin Natalie et al. Journal of personalized medicine 2016 6(1) - Disclosing Pleiotropic Effects During Genetic Risk Assessment for Alzheimer Disease: A Randomized, Controlled Trial.
Christensen Kurt D et al. Annals of internal medicine 2016 Jan - Genomics: Prediction, Prevention, Priorities, and Punnett.
Murray Michael F et al. Annals of internal medicine 2016 Jan - An eMERGE Clinical Center at Partners Personalized Medicine.
Smoller Jordan W et al. Journal of personalized medicine 2016 6(1) - Genomics: this time, it's personal.
Stempniak Marty et al. Hospitals & health networks / AHA 2015 Jul 89(7) 42-5, 1 - Toward clinical genomics in everyday medicine: perspectives and recommendations.
Delaney Susan K et al. Expert review of molecular diagnostics 2016 Jan - Genetics and genomic medicine in Ecuador.
Paz-Y-Miño César et al. Molecular genetics & genomic medicine 2016 Jan 4(1) 9-17
Cardiovascular Diseases
- Familial hypercholesterolemia: Review of diagnosis, screening, and treatment.
Turgeon Ricky D et al. Canadian family physician Me´decin de famille canadien 2016 Jan 62(1) 32-7 - Screening for Familial Thoracic Aortic Aneurysms with Aortic Imaging Does Not Detect All Potential Carriers of the Disease.
Hannuksela Matias et al. Aorta (Stamford, Conn.) 2015 Feb 3(1) 1-8 - Universal screening for cardiovascular disease risk factors in adolescents to identify high-risk families: a population-based cross-sectional study.
Khoury Michael et al. BMC pediatrics 2016 16(1) 11
Pharmacogenomics
- Studies underlying pharmacogenomics-based safety labeling can have inconsistent results.
Thompson Cheryl A et al. American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System Pharmacists 2015 May 72(10) 768-9, 771 - Current perspective on pediatric pharmacogenomics.
Abaji Rachid et al. Expert opinion on drug metabolism & toxicology 2016 Jan - Pharmacogenetics of lithium response: close to clinical practice?
Gao Keming et al. Lancet (London, England) 2016 Jan
News/Reviews/Commentaries
- Biden's Cancer Moonshot Aims to Launch Us Deep Into Our Own Genomes,
by Dawn Field, the Huffington Post, January 22, 2016 - Genetic counselors face an explosion of new tests, and increased demand,
Newsworks, January 21, 2016 - Optimizing Immunotherapy in Colorectal Cancer,
by Diana L. Hanna , MD, and Heinz-Josef Lenz, MD, The Gastrointestinal Cancers Symposium, January 23, 2016 - Geneticists expect major breakthroughs in 2016,
by Claire O'Connell, the Irish Times, January 27, 2016 - Disclosure of incidental genetic findings can have positive impact for patients,
EurekAlert, January 26, 2016 - Should you get tested for the breast cancer gene?
By Lindsey Murray, Fox News Health, January 26, 2016 - Are Healthcare Providers Interested in Precision Medicine?
By Jennifer Bresnick, Health IT Analytics, January 21, 2016 - President’s Precision Medicine Initiative – First Annual Check-Up,
The National Law Review, January 26, 2016 - How whole-genome sequencing solved my son’s genetic mystery,
by Sarah Foye, Vector, Boston Children's Hospital, January 25, 2016 - Scientists open the ‘black box’ of schizophrenia with dramatic genetic discovery,
by Amy Ellis Nutt, the Washington Post, January 27, 2016 - The big sell: Direct-to-consumer tests promise patients more abundant and accessible information, but potential pitfalls abound.
Nelson Bryn Cancer cytopathology 2016 1 0. (1) 7-8. - Scientists Move Closer to Understanding Schizophrenia’s Cause,
by Benedict Carey, New York Times, January 27, 2016 - Calls intensify to get Medicare to pay for genetic sequencing of tumors,
by Dylan Scott, STAT, January 26, 2016 - The Right Dose: How Pharmacy Researchers Are Making Medicine More Precise,
by Koren Wetmore, University of California San Francisco, January 20, 2016
Funding Opportunities
- NIH genome sequencing program targets the genomic bases of common, rare disease,
NIH, January 14, 2016
Events
- Addressing Gaps in Genetic Services: Regional and National Models in the US
February 2, 2016 ~ Webinar - 2016 ACMG Annual Clinical Genetics Meeting
March 8-12 ~ Tampa, FL - Rare Disease Day at NIH
February 29, 2016 ~ Bethesda, MD
CDC-Authored Genomics Publications
- First Report of Rickettsia Identical to R. slovaca in Colony-Originated D. variabilis in the United States: Detection, Laboratory Animal Model, and Vector Competence of Ticks.
Zemtsova Galina E, Killmaster Lindsay F, Montgomery Merrill, Schumacher Lauren, Burrows Matt, Levin Michael L Vector borne and zoonotic diseases (Larchmont, N.Y.) 2016 1 0. . - Identification of Source of Brucella suis Infection in Human by Using Whole-Genome Sequencing, United States and Tonga.
Quance Christine, Robbe-Austerman Suelee, Stuber Tod, Brignole Tom, DeBess Emilio E, Boyd Laurel, LeaMaster Brad, Tiller Rebekah, Draper Jenny, Humphrey Sharon, Erdman Matthew M Emerging infectious diseases 2016 1 0. (1) 79-82. - Public Health and Rare Diseases: Oxymoron No More
Valdez R, et al. Chronic Diseases Volume 13 January 14, 2016
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