Publication Date: Nov 16, 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. View Data Selection Criteria
Human Genomics across the Lifespan
Birth Defects and Child Health
- Family-centred care for families living with cystic fibrosis in a rural setting: A qualitative study.
Jessup Melanie et al. Journal of clinical nursing 2017 Oct - Factors associated with continuing emergence of β-thalassemia major despite prenatal testing: a cross-sectional survey.
Al Sabbah Haleama et al. International journal of women's health 2017 9673-679 - Roadmap for an early gene therapy for cystic fibrosis airway disease.
Carlon Marianne S et al. Prenatal diagnosis 2017 Oct - 22q11 deletion syndrome: Parents' and children's experiences of educational and healthcare provision in the United Kingdom.
Cohen Wendy et al. Journal of child health care : for professionals working with children in the hospital and community 2017 Jun 21(2) 142-152 - Monogenic Diseases of DNA Repair.
Keijzers Guido et al. The New England journal of medicine 2017 377(19) 1868-1876 - Rare genetic diseases: update on diagnosis, treatment and online resources.
Pogue Robert E et al. Drug discovery today 2017 Nov - From sperm to offspring: Assessing the heritable genetic consequences of paternal smoking and potential public health impacts.
Beal Marc A et al. Mutation research 2017 Jul 77326-50 - Thirty Years of Sweat Chloride Testing at One Referral Center.
Faria Alethéa Guimarães et al. Frontiers in pediatrics 2017 5222
Cancer
- Immunohistochemical Pitfalls: Common Mistakes in the Evaluation of Lynch Syndrome.
Markow Michael et al. Surgical pathology clinics 2017 Dec 10(4) 977-1007 - A Bayesian scoring rule on clustered event data for familial risk assessment - An example from colorectal cancer screening.
Rieger Anna K et al. Biometrical journal. Biometrische Zeitschrift 2017 Nov - Cancer gene profiling in non-small cell lung cancers reveals activating mutations in JAK2 and JAK3 with therapeutic implications.
Li Shuyu D et al. Genome medicine 2017 Oct 9(1) 89 - Budget impact analysis of gene expression tests to aid therapy decisions for breast cancer patients in Germany.
Lux M P et al. Breast (Edinburgh, Scotland) 2017 Nov 3789-98 - Implementation of precision medicine in clinical trials in thoracic oncology: Which are the hurdles?
Scagliotti Giorgio V et al. Cancer 2017 Nov - Real-World Evidence and Randomized Studies in the Precision Oncology Era: The Right Balance
B Gyawali et al, JCO Precision Oncology, Nov 2017 - Feasibility of structured endurance training and Mediterranean diet in BRCA1 and BRCA2 mutation carriers - an interventional randomized controlled multicenter trial (LIBRE-1).
Kiechle Marion et al. BMC cancer 2017 Nov 17(1) 752 - Considerations in Testing for Inherited Breast Cancer Predisposition in the Era of Personalized Medicine.
Powers Benjamin et al. Surgical oncology clinics of North America 2018 Jan 27(1) 1-22 - EGFR mutation prevalence in Asia-Pacific and Russian patients with advanced NSCLC of adenocarcinoma and non-adenocarcinoma histology: The IGNITE study.
Han Baohui et al. Lung cancer (Amsterdam, Netherlands) 2017 Nov 11337-44 - Basket Studies: Redefining Clinical Trials in the Era of Genome-Driven Oncology.
Tao Jessica J et al. Annual review of medicine 2017 Nov - Universal determination of microsatellite instability using BAT26 as a single marker in an Argentine colorectal cancer cohort.
González María Laura et al. Familial cancer 2017 Nov - When should patients undergo genetic testing for hereditary colon cancer syndromes?
Idos Gregory et al. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2017 Nov - Tumor molecular profiling of NSCLC patients using next generation sequencing.
Tsoulos Nikolaos et al. Oncology reports 2017 Dec 38(6) 3419-3429 - Impact of ABCB1 and CYP2D6 polymorphisms on tamoxifen treatment outcomes and adverse events in breast cancer patients.
Argalacsova Sona et al. Journal of B.U.ON. : official journal of the Balkan Union of Oncology 22(5) 1217-1226 - Status of Testing for High-Level Microsatellite Instability/ Deficient Mismatch Repair in Colorectal Carcinoma.
Hamilton Stanley R et al. JAMA oncology 2017 Nov e173574 - Woman who put her exhaustion down to her busy lifestyle discovers she has bowel cancer at 32 – which doctors missed for a whole year because they thought she was 'too young' to get it
Daily Mail, Nov 10, 2017 - Gene Editing Provides Clues to Why Cancer Immunotherapy Often Fails.
Hampton Tracy et al. JAMA 2017 Nov 318(17) 1641-1642 - Current and Future Roles of PARP Inhibitors in Ovarian Cancer
J Na, Cancer Therapy Advisor, Nov 9, 2017 - Clinical and translational implications of RET rearrangements in non-small cell lung cancer.
Ferrara Roberto et al. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2017 Nov - Colorectal Cancer Family History
CDC YouTube Video - Mismatch Repair Deficiency Testing in Patients With Colorectal Cancer and Nonadherence to Testing Guidelines in Young Adults.
Shaikh Talha et al. JAMA oncology 2017 Nov e173580 - Genetic polymorphisms and lung cancer risk: Evidence from meta-analyses and genome-wide association studies.
Liu Caiyang et al. Lung cancer (Amsterdam, Netherlands) 2017 Nov 11318-29 - Genomic Markers in Prostate Cancer Decision Making.
Cucchiara Vito et al. European urology 2017 Nov - First Prospective Multicenter Italian Study on the Impact of the 21-Gene Recurrence Score in Adjuvant Clinical Decisions for Patients with ER Positive/HER2 Negative Breast Cancer.
Dieci Maria Vittoria et al. The oncologist 2017 Nov - Precision Oncology Beyond Targeted Therapy: Combining Omics Data with Machine Learning Matches the Majority of Cancer Cells to Effective Therapeutics.
Ding Michael Q et al. Molecular cancer research : MCR 2017 Nov - Precision medicine for urothelial bladder cancer: update on tumour genomics and immunotherapy.
Felsenstein Kenneth M et al. Nature reviews. Urology 2017 Nov - Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1.
Buchanan Daniel D et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Nov - Discordance between oncotype DX recurrence score and RSPC for predicting residual risk of recurrence in ER-positive breast cancer.
Dodson Andrew et al. Breast cancer research and treatment 2017 Nov - Investigating Uncertainty in Genetic Counseling Encounters: Managing Information About Genetic Cancer Risk.
Rauscher Emily A et al. Journal of health communication 2017 Nov 1-9 - Clinical and translational implications of RET rearrangements in non-small cell lung cancer.
Ferrara Roberto et al. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2017 Nov - Molecular Tumor Boards: Realizing Precision Oncology Therapy.
Patel Maulik et al. Clinical pharmacology and therapeutics 2017 Nov - A seven-gene prognostic signature for rapid determination of head and neck squamous cell carcinoma survival.
Shen Sipeng et al. Oncology reports 2017 Dec 38(6) 3403-3411 - An NRG Oncology/GOG study of molecular classification for risk prediction in endometrioid endometrial cancer.
Cosgrove Casey M et al. Gynecologic oncology 2017 Nov - Implementing an oncology precision medicine clinic in a large community health system.
Thompson Michael A et al. The American journal of managed care 2017 Aug 23(10 Spec No.) SP425-SP427 - The emerging roles of NGS-based liquid biopsy in non-small cell lung cancer.
Zhang Yi-Chen et al. Journal of hematology & oncology 2017 Oct 10(1) 167 - Preoperative genetic testing in pheochromocytomas and paragangliomas influences the surgical approach and the extent of adrenal surgery.
Nockel Pavel et al. Surgery 2017 Nov - Information and support needs of young women regarding breast cancer risk and genetic testing: adapting effective interventions for a novel population.
O'Neill Suzanne C et al. Familial cancer 2017 Nov - From the laboratory to the clinic: sharing BRCA VUS reclassification tools with practicing genetics professionals.
Augusto Bianca M et al. Journal of community genetics 2017 Nov - Liquid Biopsy and Therapeutic Targets: Present and Future Issues in Thoracic Oncology.
Hofman Paul et al. Cancers 2017 Nov 9(11)
Chronic Disease
- Precision medicine in addiction research: where has the time gone?
Oliver Jason A et al. Addiction (Abingdon, England) 2017 Dec 112(12) 2096-2097 - Nutritional Epigenetics: Your Genes Are Not Your Destiny
N Urdhal, University of Michigan, November, 2017 - Treatment response heterogeneity in asthma: the role of genetic variation.
Vijverberg Susanne J H et al. Expert review of respiratory medicine 2017 Nov - The Secret to Long Life? It May Lurk in the DNA of the Oldest Among Us
A Harmon, NY Times, Nov 13, 2017 - Tolvaptan and Autosomal Dominant Polycystic Kidney Disease.
Ingelfinger Julie R et al. The New England journal of medicine 2017 Nov 377(20) 1988-1989 - Quitting Can Make You a Winner
- Advancing stroke genomic research in the age of Trans-Omics big data science: Emerging priorities and opportunities.
Owolabi Mayowa et al. Journal of the neurological sciences 2017 Nov 38218-28 - Precision medicine for monogenic diabetes: from a survey to the development of a next-generation diagnostic panel.
Kherra Sakina et al. Swiss medical weekly 2017 Nov 147w14535 - The Dangers of Direct-to-Consumer Genetic Testing for Alzheimer's Disease : Comment on "Personal Genomic Testing, Genetic Inheritance, and Uncertainty".
Lacaze Paul et al. Journal of bioethical inquiry 2017 Nov - Study Points to Value of Genetic Testing in Epilepsy: But genetic testing guidelines and insurance coverage are lacking.
et al. American journal of medical genetics. Part A 2017 Dec 173(12) 3123-3124 - Pharmacogenetic and pharmacogenomic considerations of asthma treatment.
Matera Maria Gabriella et al. Expert opinion on drug metabolism & toxicology 2017 Nov 13(11) 1159-1167 - Genes for Healthy Aging Found
Gen News Highlights, Nov 10, 2017
Ethics/Policy/Law
- FDA unveils a streamlined path for the authorization of tumor profiling tests alongside its latest product action- Newly authorized test detects genetic cancer mutations in 468 unique genes
FDA, November 15, 2017 - Unfair discrimination in prenatal aneuploidy screening using cell-free DNA?
Fröhlich E P et al. European journal of obstetrics, gynecology, and reproductive biology 2017 Nov - Power to the People: Data Citizens in the Age of Precision Medicine.
Evans Barbara J et al. Vanderbilt journal of entertainment and technology law 2017 19(2) 243-265 - Disclosure of genetic information to relatives: balancing confidentiality and relatives' interests.
Lucassen Anneke et al. Journal of medical genetics 2017 Nov - Ethics and Epistemology of Big Data.
Lipworth Wendy et al. Journal of bioethical inquiry 2017 Nov - Paving the road to personalized medicine: recommendations on regulatory, intellectual property and reimbursement challenges
L Knowles et al, Journal of Law and the Biosciences, Nov 2017
Practice
- Statement from FDA Commissioner Scott Gottlieb, M.D., on implementation of agency’s streamlined development and review pathway for consumer tests that evaluate genetic health risks
FDA, Nov 6, 2017 - The Future Emerges from the Past : Comment on "Personal Genomic Testing, Genetic Inheritance, and Uncertainty".
Halovic Shaun et al. Journal of bioethical inquiry 2017 Nov - Committee Opinion No. 724 Summary: Consumer Testing for Disease Risk.
et al. Obstetrics and gynecology 2017 Nov 130(5) 1176-1177 - Consumer use and response to online third-party raw DNA interpretation services
C Wang et al, Molec Genetics & Genomic Med, Nov 2017 - Geisinger launches National Precision Health Initiative
PR Newswire, Nov 14, 2017 - Expanding Role for Genetic Counselors: Good for Our Profession, Great for Our Patients
E Ramos, ASHG Blog Post, Nov 2017 - You Can Get Your DNA Tested At An NFL Game. Should You?
By Doug Levy, NPR, November 8, 2017 - A gene-editing first: Scientists try to edit a living human’s DNA
M Marchione, Genetic Literacy Project, Nov 15, 2017 - Challenges in Implementing Personalized Care Planning-Reply.
Edwards Samuel T et al. JAMA 2017 318(17) 1713-1714 - Precision medicine for all? Challenges and opportunities for a precision medicine approach to critical illness.
Seymour Christopher W et al. Critical care (London, England) 2017 Oct 21(1) 257 - Improving Direct-to-Consumer Medical Testing-Reply.
Rockwell Kimberly Lovett et al. JAMA 2017 318(16) 1613-1614 - Understanding variations in secondary findings reporting practices across U.S. genome sequencing laboratories.
Ackerman Sara et al. AJOB empirical bioethics 2017 Nov 0 - Predictors of adverse psychological experiences surrounding genome-wide profiling for disease risk.
Broady K M et al. Journal of community genetics 2017 Nov - Incorporating Social Media into your Support Tool Box: Points to Consider from Genetics-Based Communities.
Rocha Heather Mae et al. Journal of genetic counseling 2017 Nov - Patient outcomes of genetic counseling: assessing the impact of different approaches to family history collection.
Slomp C et al. Clinical genetics 2017 Nov - Actionable secondary findings from whole-genome sequencing of 954 East Asians.
Tang Clara Sze-Man et al. Human genetics 2017 Nov - Prospects for using risk scores in polygenic medicine.
Lewis Cathryn M et al. Genome medicine 2017 Nov 9(1) 96 - This Women-Driven Field Is Changing Health Care- Ninety-five percent of genetic counselors are women.
C Nazareth, US News, Nov 9, 2017
Cardiovascular Diseases
- 2017 FH Global Summit At-a-Glance
The FH Foundation, November 2017 - Genome-wide polygenic score to identify a monogenic risk-equivalent for coronary disease
AV Khera et al, BioRXIV, Nov 15, 2017 - Sudden Cardiac Arrest during Participation in Competitive Sports.
Landry Cameron H et al. The New England journal of medicine 2017 Nov 377(20) 1943-1953 - Towards Cardio-Precision medicine.
Sayed Nazish et al. European heart journal 2017 Apr 38(14) 1014-1016
Newborn Screening
- Cystic fibrosis newborn screening: outcome of infants with normal sweat tests.
Edmondson Claire et al. Archives of disease in childhood 2017 Nov - Newborn Screening for Primary Immunodeficiency Diseases: History, Current and Future Practice.
King Jovanka R et al. Journal of clinical immunology 2017 Nov - Precision newborn screening for lysosomal disorders.
Minter Baerg Melissa M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Nov - A Practical Guide to Implementing Population Newborn Screening (NBS) for Severe Combined Immunodeficiency (SCID)
HB Gaspar, Int. J. Neonatal Screen. 2017, 3(4), 29;
Pharmacogenomics
- A Phamacoeconomic Analysis of Personalized Dosing vs Fixed Dosing of Pembrolizumab in Firstline PD-L1-Positive Non-Small Cell Lung Cancer.
Goldstein Daniel A et al. Journal of the National Cancer Institute 2017 Nov 109(11) - Pharmacogenetic considerations for HIV treatment in different ethnicities: an update.
Neary M et al. Expert opinion on drug metabolism & toxicology 2017 Nov 13(11) 1169-1181
Reproductive Health
- Has non-invasive prenatal testing impacted termination of pregnancy and live birth rates of infants with Down syndrome?
Hill Melissa et al. Prenatal diagnosis 2017 Nov - Preimplantation genetic testing: current challenges and future prospects.
Kuliev Anver et al. Expert review of molecular diagnostics 2017 Nov 1-18 - Implications of failure to achieve a result from prenatal maternal serum cell-free DNA testing: a historical cohort study.
Chan Noni et al. BJOG : an international journal of obstetrics and gynaecology 2017 Nov - Economic analysis of prenatal screening strategies for Down syndrome in singleton pregnancies in Turkey.
Ökem Zeynep Güldem et al. European journal of obstetrics, gynecology, and reproductive biology 2017 Oct 21940-44 - Review of Patient Decision-Making Factors and Attitudes Regarding Preimplantation Genetic Diagnosis.
Genoff Garzon Margaux C et al. Clinical genetics 2017 Nov - Compelling Reasons for Repairing Human Germlines.
Church George et al. The New England journal of medicine 2017 Nov 377(20) 1909-1911 - Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women.
Badeau Mylène et al. The Cochrane database of systematic reviews 2017 Nov 11CD011767 - Women's Preference For Non-Invasive Prenatal DNA Testing (NIPT) Versus Chromosomal Microarray After Screening For Down Syndrome: A Prospective Study.
Cheng Yvonne Kwun Yue et al. BJOG : an international journal of obstetrics and gynaecology 2017 Nov - Sex discordance identification following non-invasive prenatal testing.
Richardson Ebony J et al. Prenatal diagnosis 2017 Nov - Parent Perspectives of Support Received from Physicians and/or Genetic Counselors Following a Decision to Continue a Pregnancy with a Prenatal Diagnosis of Trisomy 13/18.
Wallace Stephanie E et al. Journal of genetic counseling 2017 Oct - Pre Gestational Thalassemia Screening in Mainland China: The First Two Years of a Preventive Program.
Jiang Fan et al. Hemoglobin 2017 Nov 1-6 - Prenatal and Postnatal Genetic Testing: Why, How, and When?
Stoler Joan M et al. Pediatric annals 2017 Nov 46(11) e423-e427
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.
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