Publication Date: Feb 9, 2017
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
- Genetic Disorders of Dental Development: Tales from the Bony Crypt.
Frazier-Bowers Sylvia A et al. Current osteoporosis reports 2017 Jan - Genetics of inherited cardiocutaneous syndromes: a review.
Bardawil Tara et al. Open heart 2016 3(2) e000442 - Congenital hearing loss.
Korver Anna M H et al. Nature reviews. Disease primers 2017 316094 - What Is New in Genetics of Congenital Heart Defects?
Digilio Maria Cristina et al. Frontiers in pediatrics 2016 4120 - Sickle Cell Trait: A Benign State?
Kotila Taiwo R et al. Acta haematologica 2016 136(3) 147-51 - Sickle Cell Trait and Interpretation of Hemoglobin A1c Levels.
Bleyer Anthony J et al. JAMA 2017 Feb 317(5) 481-482 - Key Findings: CDC’s Sickle Cell Data Collection Program Data Useful in Describing Patterns of Emergency Department Visits by Californians with Sickle Cell Disease (SCD)
- The need for a next-generation public health response to rare diseases.
R Valdez et al, CDC Blog Post, February 2017 - Sickle cell trait: what are the costs and benefits of screening?
Shephard Roy J et al. The Journal of sports medicine and physical fitness 2016 Dec 56(12) 1562-1573 - Gene therapy: Deaf to hearing a whisper
J Gallagher, BBC, February 7, 2017 - Association of Sickle Cell Trait With Hemoglobin A1c in African Americans.
Lacy Mary E et al. JAMA 2017 Feb 317(5) 507-515 - Advances in genetic hearing loss: CIB2 gene.
Jacoszek Agnieszka et al. European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 2016 Oct - DMDtoolkit: a tool for visualizing the mutated dystrophin protein and predicting the clinical severity in DMD.
Zhou Jiapeng et al. BMC bioinformatics 2017 Feb 18(1) 87 - [Recommendations for the diagnosis and treatment of classic forms of 21-hydroxylase-deficient congenital adrenal hyperplasia].
Rodríguez Amparo et al. Anales de pediatria (Barcelona, Spain : 2003) 2017 Feb - "They Just Want to Know" - Genetic Health Professionals' Beliefs About Why Parents Want to Know their Child's Carrier Status.
Vears Danya F et al. Journal of genetic counseling 2017 Feb - Adherence to clinic recommendations among patients with phenylketonuria in the United States.
Jurecki E R et al. Molecular genetics and metabolism 2017 Jan - Host genetics role in the pathogenesis of periodontal disease and caries.
Nibali Luigi et al. Journal of clinical periodontology 2016 Oct - Sickle cell trait in black patients can skew diabetes test results
S Gordon, UPI, February 7, 2017 - The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.
Ramoni Rachel B et al. American journal of human genetics 2017 Feb 100(2) 185-192 - Genetics of Congenital Heart Disease: Past and Present.
Muntean Iolanda et al. Biochemical genetics 2016 Nov
Cancer
- Genetic Testing and Counseling Among Patients With Newly Diagnosed Breast Cancer .
Kurian Allison W et al. JAMA 2017 317(5) 531-534 - Many high-risk patients with breast cancer aren’t getting genetic testing. Here’s why
L McGinley, Washington Post, February 7, 2017 - Grail to pour $1 billion into blood test to detect early cancer.
Sheridan Cormac et al. Nature biotechnology 2017 Feb 35(2) 101-102 - The potential utility of re-mining results of somatic mutation testing: KRAS status in lung adenocarcinoma.
Biernacka Anna et al. Cancer genetics 2016 May 209(5) 195-8 - Early Detection of Ovarian Cancer using the Risk of Ovarian Cancer Algorithm with Frequent CA125 Testing in Women at Increased Familial Risk - Combined Results from Two Screening Trials.
Skates Steven J et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Jan - Breast oncology precision medicine: Genomic testing and treatment at the population level.
Li Yun et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2016 Mar 34(7_suppl) 288 - Contralateral prophylactic mastectomy decision-making in the population-based iCanCare study of early-stage breast cancer patients.
Hawley Sarah T et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2016 Mar 34(7_suppl) 177 - Understanding patterns of genetic risk evaluation (GRE) referral and uptake in patients (pts) with epithelial ovarian cancer (EOC).
Morgan Robert et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2016 Mar 34(7_suppl) 254 - Women With Breast Cancer Miss Out On Recommended Genetic Testing
J Boddy, NPR, February 7, 2017 - Low utility of Oncotype DX® in the clinic.
Ricks-Santi Luisel J et al. Cancer medicine 2017 Feb - Psychosocial factors associated with the uptake of contralateral prophylactic mastectomy among BRCA1/2 mutation noncarriers with newly diagnosed breast cancer.
Hamilton Jada G et al. Breast cancer research and treatment 2017 Feb - High-risk breast cancer patients fail to receive genetic testing,
by Ana Sandoiu, Medical News Today, February 7, 2017 - Opportunities for precision medicine: Factors associated with participation in genetic research among breast cancer survivors.
Zheng Ling et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2016 Jan 34(3_suppl) 94 - Personalized medicine as a model of care to improve patient outcomes, communication, and reduce cost.
Davis John M et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2016 Jan 34(3_suppl) e270 - Impact of hereditary multigene panel testing for cancer survivors.
Swisher Jennifer et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2016 Jan 34(3_suppl) 261 - Patient uptake and satisfaction with advanced genomic technologies offered through an employee benefit program.
Knickelbein Kelly Z et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2016 Mar 34(7_suppl) 72 - BRCA1 and BRCA2 mutation predictions using the BRCAPRO and Myriad models in Korean ovarian cancer patients.
Eoh Kyung Jin et al. Gynecologic oncology 2017 Feb - Single-Center Experience with a Targeted Next Generation Sequencing Assay for Assessment of Relevant Somatic Alterations in Solid Tumors.
Paasinen-Sohns Aino et al. Neoplasia (New York, N.Y.) 2017 Feb 19(3) 196-206 - Mainstreaming cancer genetics: A model integrating germline BRCA testing into routine ovarian cancer clinics.
Kentwell Maira et al. Gynecologic oncology 2017 Feb - Targeted pharmacotherapy after somatic cancer mutation screening.
Polasek Thomas M et al. F1000Research 2016 51551 - Molecular Biomarkers for the Evaluation of Colorectal Cancer: Guideline From the American Society for Clinical Pathology, College of American Pathologists, Association for Molecular Pathology, and the American Society of Clinical Oncology.
Sepulveda Antonia R et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2017 Feb JCO2016719807
Chronic Diseases
- Facts About Age-Related Macular Degeneration
NIH, National Eye Institute - Personalized Medicine in Respiratory Disease: Role of Proteomics.
Priyadharshini V S et al. Advances in protein chemistry and structural biology 2016 102115-46 - Genetic testing in ALS: A survey of current practices.
Vajda Alice et al. Neurology 2017 Feb - (476) Assessing pain perception by genetic testing of COMT haplotypes influences clinical decisions for chronic non-cancer pain patients.
Anand N et al. The journal of pain : official journal of the American Pain Society 2016 Apr 17(4S) S93 - Recent advances in understanding and treating COPD related to α1-antitrypsin deficiency.
Henao Maria Paula et al. Expert review of respiratory medicine 2016 Dec 10(12) 1281-1294
Ethics, Policy and Law
- Regulation of genomic and biobanking research in Africa: a content analysis of ethics guidelines, policies and procedures from 22 African countries.
de Vries Jantina et al. BMC medical ethics 2017 Feb 18(1) 8 - Approaching confidentiality at a familial level in genomic medicine: a focus group study with healthcare professionals.
Dheensa Sandi et al. BMJ open 2017 Feb 7(2) e012443
Genomics in Practice
- Beyond prediction: Using big data for policy problems.
Athey Susan et al. Science (New York, N.Y.) 2017 Feb 355(6324) 483-485 - Evaluating Precision Medicine's Ability to Improve Population Health.
Hoosien Michael et al. JAMA 2017 317(4) 440-441 - Biobanking for “All of Us”
Genetic engineering and Biotechnology News, February 2017 - How gene editing is revolutionizing the pharmaceuticals industry
The Telegraph, February 5, 2017 - Which Results to Return: Subjective Judgments in Selecting Medically Actionable Genes.
Lázaro-Muñoz Gabriel et al. Genetic testing and molecular biomarkers 2017 Feb - Implementation Science in Genomic Medicine: Why we need it now!
MC Roberts et al, CDC blog post, February 2017 - How Can Genetically Informed Research Help Inform the Next Generation of Interparental and Parenting Interventions?
Harold Gordon T et al. Child development 2017 Feb
Cardiovascular Diseases
- 6 Reasons to Talk to Your Family About Heart Disease
- LDLR Variant Databases and Familial Hypercholesterolemia Population Studies
L Andersen et al, JACC, February 2017 - Child-Parent Familial Hypercholesterolemia Screening in Primary Care.
Wald David S et al. The New England journal of medicine 2017 376(5) 499-500 - Child-Parent Familial Hypercholesterolemia Screening in Primary Care.
Kullo Iftikhar J et al. The New England journal of medicine 2017 376(5) 498 - Child-Parent Familial Hypercholesterolemia Screening in Primary Care.
Martin Andrew C et al. The New England journal of medicine 2017 376(5) 498 - Child-Parent Familial Hypercholesterolemia Screening in Primary Care.
Khera Amit V et al. The New England journal of medicine 2017 376(5) 498-9 - Why Are Young, Fit People Dying From Heart Disease?
By Anna Medaris Miller, Health US News, February 2, 2017 - Analysis of Children and Adolescents with Familial Hypercholesterolemia.
Minicocci Ilenia et al. The Journal of pediatrics 2017 Feb
Newborn Screening
- Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience.
Ahrens-Nicklas Rebecca C et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Feb
Reproductive Health
- Attitudes Toward Pre-implantation Genetic Diagnosis (PGD) for Genetic Disorders Among Potential Users in Malaysia.
Olesen Angelina Patrick et al. Science and engineering ethics 2016 Feb 22(1) 133-46 - Secrets of life in a spoonful of blood
C AInsworth, Nature News, February 7, 2017
Pharmacogenomics
- Clinical impact of pharmacogenetic profiling with a clinical decision support tool in polypharmacy home health patients: A prospective pilot randomized controlled trial.
Elliott Lindsay S et al. PloS one 2017 12(2) e0170905
News/Reviews/Commentaries
- NIH to expand critical catalog for genomics research,
NHGRI, February 2, 2017
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.
Public Health Genomics Knowledge Base (v1.2)
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