Public Health Genomics Knowledge Base (v1.2)
August 4-11, 2016
Health Impact Weekly Scan
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.
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Human Genomics across the Lifespan
Birth Defects/Child Health
Cancer
Chronic Disease
Ethics/Policy/Law
Practice
Cardiovascular Diseases
Newborn Screening
Pharmacogenomics
Reproductive Health
News/ Reviews/Comments
Birth Defects and Child Health
Mom of first person saved by DNA sequencing fighting to increase access
M Carstensen, Fix News, August 3, 2016
Innate Immunity and Asthma Risk in Amish and Hutterite Farm Children
MM Stein et al, NEJM, August 3, 2016
Mom of first person saved by DNA sequencing fighting to increase access,
by Melinda Carstensen, Fox Health News, August 3, 2016
Utilization of genetic testing among children with developmental disabilities in the United States.
Kiely Bridget et al. The application of clinical genetics 2016 993-100
The Clinical Predictors That Facilitate a Clinician's Decision to Order Genetic Testing for Rett Syndrome.
Knight Vinita Misra et al. Pediatric neurology 2016 Jun
A sneak peek at personalized medicine in autism?
LF Kung, Science Translational Medicine, July 27, 2016
Severe birth defects not as lethal as docs once said: Study
US News, July 26, 2016
Twenty-year follow-up of newborn screening for patients with muscular dystrophy.
Chung Jeffrey et al. Muscle & nerve 2016 Apr 53(4) 570-8
Innate Immunity in Asthma
TA Chatilla, NEJM, AUgust 3 2016
Genetic Evaluation and Use of Chromosome Microarray in Patients with Isolated Heart Defects: Benefits and Challenges of a New Model in Cardiovascular Care.
Helm Benjamin M et al. Frontiers in cardiovascular medicine 2016 319
Survival and Surgical Interventions for Children With Trisomy 13 and 18.
Nelson Katherine E et al. JAMA 2016 Jul 316(4) 420-8
From Genetics to Epigenetics: New Perspectives in Tourette Syndrome Research.
Pagliaroli Luca et al. Frontiers in neuroscience 2016 10277
Cytogenomic Aberrations in Congenital Cardiovascular Malformations.
Azamian Mahshid et al. Molecular syndromology 2016 May 7(2) 51-61
Cancer
Family history and the risk of colorectal cancer: The importance of patients' history of colonoscopy.
Weigl Korbinian et al. International journal of cancer 2016 Jul
Stratified, precision or personalised medicine? Cancer services in the 'real world' of a London hospital.
Day Sophie et al. Sociology of health & illness 2016 Jul
Iranian women's attitude toward prophylactic mastectomy for breast cancer.
Majidzadeh-A Keivan et al. Journal of cancer research and therapeutics 12(2) 915-9
Updated guidelines for breast cancer increase number of patients who test HER2-positive,
News-Medical.net, July 28, 2016
Identifying Needs: a Qualitative Study of women's Experiences Regarding Rapid Genetic Testing for Hereditary Breast and Ovarian Cancer in the DNA BONus Study.
Augestad Mirjam Tonheim et al. Journal of genetic counseling 2016 Jul
Genetic testing and personalized ovarian cancer screening: a survey of public attitudes.
Meisel Susanne F et al. BMC women's health 2016 16(1) 46
International cancer genetics researchers meeting in Israel say half of people who would benefit from testing aren’t candidates under current rules
Israel 21c, July 28, 2016
Outcome of thyroid gene expression classifier testing in clinical practice.
Witt Robert L et al. The Laryngoscope 2016 Feb 126(2) 524-7
Genomics of Hereditary Colorectal Cancer: Lessons Learnt from 25 Years of the Singapore Polyposis Registry.
Chew Min Hoe et al. Annals of the Academy of Medicine, Singapore 2015 Aug 44(8) 290-6
Internet-based physical activity intervention for women with a family history of breast cancer.
Hartman Sheri J et al. Health psychology : official journal of the Division of Health Psychology, American Psychological Association 2015 Dec 34 Suppl1296-304
Clinical utility of microRNA-378 as early diagnostic biomarker of human cancers: a meta-analysis of diagnostic test.
Li Zhan-Zhan et al. Oncotarget 2016 Jul
Women Need More Information to Cope With Aftermath of BRCA-Prompted Preventive Surgery
E Leck, Oncology Nursing News, August 1, 2016
Clinical Utility of Next Generation Sequencing for Oncogenic Mutations in AML Patients Undergoing Allogeneic Stem Cell Transplantation.
Luskin Marlise R et al. Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2016 Jul
Next-generation personalised medicine for high-risk paediatric cancer patients - The INFORM pilot study.
Worst Barbara C et al. European journal of cancer (Oxford, England : 1990) 2016 Jul 6591-101
Evaluation of the Effect of Diagnostic Molecular Testing on the Surgical Decision-Making Process for Patients With Thyroid Nodules.
Noureldine Salem I et al. JAMA otolaryngology-- head & neck surgery 2016 Jul 142(7) 676-82
Biomarkers of genome instability and cancer epigenetics.
Reis Adriana H O et al. Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine 2016 Jul
Chronic Diseases
Genetic Counselling for Psychiatric Disorders: Accounts of Psychiatric Health Professionals in the United Kingdom.
Jenkins Sian et al. Journal of genetic counseling 2016 Jul
The clinical perspective: How to personalise treatment in MS and how may biomarkers including imaging contribute to this?
Vermersch Patrick et al. Multiple sclerosis (Houndmills, Basingstoke, England) 2016 Aug 22(2 Suppl) 18-33
A Qualitative Study of Anticipated Decision Making around Type 2 Diabetes Genetic Testing: the Role of Scientifically Concordant and Discordant Expectations.
Carmichael Alicia G et al. Journal of genetic counseling 2016 Jul
The Emerging Role of Epigenetics in Inflammation and Immunometabolism.
Raghuraman Sukanya et al. Trends in endocrinology and metabolism: TEM 2016 Jul
Epigenetics and aging.
Pal Sangita et al. Science advances 2016 Jul 2(7) e1600584
Sickle Cell Trait, Rhabdomyolysis, and Mortality among U.S. Army Soldiers
DA Nelson et al, NEJM, August 3, 2016
Ethics, Policy and Law
National Academies Hit the Brakes on Gene Drive-Modified Organisms.
Abbasi Jennifer et al. JAMA 2016 Aug 316(5) 482-3
Distributive justice, diversity, and inclusion in precision medicine: what will success look like?
EG Cohn et al, Genetics in Medicine, August 4, 2016
Toward Better Oversight of NGS Tests.
et al. Cancer discovery 2016 Jul
Toward Fairness in Data Sharing
The International Consortium of Investigators for Fairness in Trial Data Sharing, NEJM, August 3, 2016
A Duty To Warn Relatives in Clinical Genetics: Arguably 'Fair just and reasonable' in English Law?
Mitchell C et al. Tottel's journal of professional negligence 2016 Jul 32(2) 120-136
FDA Issues Draft Guidance To Streamline Regulatory Oversight Of NGS-Based Tests For Diagnosing Germline Diseases,
The National Law Review, August 1, 2016
Use of Standards in FDA Regulatory Oversight of Next Generation Sequencing (NGS)-Based In Vitro Diagnostics (IVDs) Used for Diagnosing Germline Diseases[PDF 707 KB]
Draft Guidance for Stakeholders and Food and Drug Administration Staff, FDA, July 8, 2016
FDA Draft Guidances Designed to Streamline Regulatory Oversight for Next-Generation Sequencing Tests
FDA, July 6, 2016
Strengthening Research through Data Sharing
E Warren, NEJM, August 3, 2016
Genomics in Practice
Pitfalls in genetic testing: the story of missed SCN1A mutations.
Djémié Tania et al. Molecular genetics & genomic medicine 2016 Jul 4(4) 457-64
The significant impact of education, poverty, and race on Internet-based research participant engagement.
Hartz Sarah M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Jul
Health Care Infrastructure for Financially Sustainable Clinical Genomics.
Lennerz Jochen K et al. The Journal of molecular diagnostics : JMD 2016 Jul
Preventing Genetic Testing Order Errors With a Laboratory Utilization Management Program.
Mathias Patrick C et al. American journal of clinical pathology 2016 Aug 146(2) 221-6
A Clinical Service to Support the Return of Secondary Genomic Findings in Human Research.
Darnell Andrew J et al. American journal of human genetics 2016 Mar 98(3) 435-41
"The Google of Healthcare": enabling the privatization of genetic bio/databanking.
Spector-Bagdady Kayte et al. Annals of epidemiology 2016 Jul 26(7) 515-9
State of Telehealth.
Dorsey E Ray et al. The New England journal of medicine 2016 Jul 375(2) 154-61
NIH funds precision medicine research with a focus on health disparities
NIH News Release, July 28,. 2016
Alternate Service Delivery Models in Cancer Genetic Counseling: A Mini-Review.
Buchanan Adam Hudson et al. Frontiers in oncology 2016 6120
How many genomes is enough for US Precision Medicine Initiative?
M Knight, Genetic Literacy Project, July 26, 2016
How to become a genetic counselor?
National Society for Genetic Counselors Blog Post, August 2016
Cardiovascular Diseases
What’s on the Horizon for HoFH Treatment
The FH Foundation, August 2, 2016
Value of Genetic Testing for the Prediction of Long-Term Outcome in Patients With Hypertrophic Cardiomyopathy.
van Velzen Hannah G et al. The American journal of cardiology 2016 Jun
Knowledge gaps in the management of familial hypercholesterolaemia. A UK based survey.
Schofield Jonathan et al. Atherosclerosis 2016 Jul
Newborn Screening
Newborn screening and prophylactic interventions for sickle cell disease in 47 countries in sub-Saharan Africa: a cost-effectiveness analysis.
Kuznik Andreas et al. BMC health services research 2016 16(1) 304
221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.
Bentler Kristi et al. Molecular genetics and metabolism 2016 Jul
Reproductive Health
Prenatal genetic counseling for psychiatric disorders.
Inglis Angela et al. Prenatal diagnosis 2016 Jul
Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis.
Hill Melissa et al. Prenatal diagnosis 2015 Oct 35(10) 950-8
Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics.
Gregg Anthony R et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Jul
Pharmacogenomics
Prediction of Warfarin Dose in Pediatric Patients: An Evaluation of the Predictive Performance of Several Models.
Marek Elizabeth et al. The journal of pediatric pharmacology and therapeutics : JPPT : the official journal of PPAG 21(3) 224-32
7 Things to Know About Pharmacogenomics,
by Mark Dunnenberger, U.S. News & World Report, August 1, 2016
News/Reviews/Commentaries
A call for biological data mining approaches in epidemiology.
Lynch Shannon M, Moore Jason H BioData mining 2016 0 0. 1.
“I was tired of fighting a disease”,
NIH, July 25, 2016
How the DNA Revolution Is Changing Us
The ability to quickly alter the code of life has given us unprecedented power over the natural world. Should we use it? National Geographic, August 2016
The Development of Disease,
Duke Center for Research on Personalized Health Care
Disclaimer: Articles listed in Health Impact Weekly Scan are selected by the CDC Office of Public Health Genomics to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.