Publication Date: Aug 16, 2018
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
- Early feeding practices in infants with phenylketonuria across Europe.
Pinto A et al. Molecular genetics and metabolism reports 2018 Sep 1682-89 - Rare Disease Diagnostics: A Single-center Experience and Lessons Learnt.
Weiss Karin et al. Rambam Maimonides medical journal 2018 Jul 9(3) - Qualitative Research to Explore the Patient Experience of X-Linked Hypophosphatemia and Evaluate the Suitability of the BPI-SF and WOMAC® as Clinical Trial End Points.
Theodore-Oklota Christina et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2018 Aug 21(8) 973-983 - A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.
Lumaka Aimé et al. American journal of medical genetics. Part A 2018 Aug - Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card.
Yu-Wai-Man Cynthia et al. European journal of human genetics : EJHG 2018 Aug - Genomics in neurodevelopmental disorders: an avenue to personalized medicine.
Tarlungeanu Dora C et al. Experimental & molecular medicine 2018 Aug 50(8) 100 - Diagnostic value of partial exome sequencing in developmental disorders.
Gieldon Laura et al. PloS one 2018 13(8) e0201041 - Genomic sequencing in acutely ill infants: what will it take to demonstrate clinical value?
Grosse Scott D et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Aug
Cancer
- Best colonoscopy frequency in Lynch syndrome unclear
Reuters Health News, August 14, 2018 - The NETest: The Clinical Utility of Multigene Blood Analysis in the Diagnosis and Management of Neuroendocrine Tumors.
Modlin Irvin M et al. Endocrinology and metabolism clinics of North America 2018 Sep 47(3) 485-504 - Precision Medicine in Relapsed and Refractory Childhood Cancers: Single-center Experience, Literature Review, and Meta-analysis.
Mordechai Oz et al. Rambam Maimonides medical journal 2018 Jul 9(3) - Genetics and epigenetics of pediatric leukemia in the era of precision medicine.
Ramos Kristie N et al. F1000Research 2018 7 - Ovarian cancer genetics unravelled
K Wighton, Imperial College, August 13, 2018 - Adrenocortical carcinoma (ACC): When and why should we consider germline testing?
Petr Elisabeth Joye et al. Presse medicale (Paris, France : 1983) 2018 Aug - Biological material collection to advance translational research and treatment of children with CNS tumours: position paper from the SIOPE Brain Tumour Group.
Rutkowski Stefan et al. The Lancet. Oncology 2018 Aug 19(8) e419-e428 - Cost-effectiveness and safety of the molecular targeted drugs afatinib, gefitinib and erlotinib as first-line treatments for patients with advanced EGFR mutation-positive non-small-cell lung cancer.
Kimura M et al. Molecular and clinical oncology 2018 Aug 9(2) 201-206 - Metabolic signature of squamous cell carcinoma of the head and neck: Consequences of TP53 mutation and therapeutic perspectives.
Wilkie Mark D et al. Oral oncology 2018 Aug 831-10 - Study protocol: a cluster randomized controlled trial of web-based decision support tools for increasing BRCA1/2 genetic counseling referral in primary care.
Silverman Thomas B et al. BMC health services research 2018 Aug 18(1) 633 - Patterns of family communication and preferred resources for sharing information among families with a Lynch syndrome diagnosis.
Petersen Jenna et al. Patient education and counseling 2018 Jul - Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers.
Chan Gloria H J et al. Oncotarget 2018 Jul 9(55) 30649-30660 - Gene-expression signature regulated by the KEAP1-NRF2-CUL3 axis is associated with a poor prognosis in head and neck squamous cell cancer.
Namani Akhileshwar et al. BMC cancer 2018 18(1) 46 - Large-Scale EGFR Mutation Testing in Clinical Practice: Analysis of a Series of 18,920 Non-Small Cell Lung Cancer Cases.
Evans Matthew et al. Pathology oncology research : POR 2018 Aug - Additional germline findings from a tumor profiling program.
Stjepanovic Neda et al. BMC medical genomics 2018 Aug 11(1) 65 - Zooming in on cancer suspects
S Buckles, Mayo Clinic, August 13, 2018 - BRCA1 and BRCA2 Testing in Medically Underserved Medicare Beneficiaries With Breast or Ovarian Cancer
AL Gross et al, JAMA, August 14, 2018 - Management of Individuals at Increased Hereditary Risk
ASCO, 2018 - Association of Broad-Based Genomic Sequencing With Survival Among Patients With Advanced Non-Small Cell Lung Cancer in the Community Oncology Setting.
Presley Carolyn J et al. JAMA 2018 Aug 320(5) 469-477 - 21-gene recurrence score testing in the older population with estrogen receptor-positive breast cancer.
Kizy Scott et al. Journal of geriatric oncology 2018 Aug - Decision role preferences for return of results from genome sequencing amongst young breast cancer patients.
Matsen Cindy B et al. Patient education and counseling 2018 Aug - Tumor drug penetration measurements could be the neglected piece of the personalized cancer treatment puzzle.
Bartelink Imke H et al. Clinical pharmacology and therapeutics 2018 Aug - Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations.
Pujol Pascal et al. European journal of human genetics : EJHG 2018 Aug - Is a Family History of the Breast Cancer Related to Women's Cancer Prevention Behaviors?
Bertoni Neilane et al. International journal of behavioral medicine 2018 Aug - Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing.
Shimelis Hermela et al. Journal of the National Cancer Institute 2018 Aug - Broad-Based Molecular Testing for Lung Cancer: Precisely the Time for Precision.
Bunn Paul A et al. JAMA 2018 Aug 320(5) 445-446 - Cardiotoxicity: precision medicine with imprecise definitions.
Chung Robin et al. Open heart 2018 5(2) e000774 - Pancreatic cancer survival analysis defines a signature that predicts outcome.
Raman Pichai et al. PloS one 2018 13(8) e0201751 - A digital RNA signature of Circulating Tumor Cells predicting early therapeutic response in localized and metastatic breast cancer.
Kwan Tanya T et al. Cancer discovery 2018 Aug - Approaches to Identify and Care for Individuals with Inherited Cancer Syndromes (U01 Clinical Trial Required)
NCI Moonshot Funding Announcement, August 10, 2018 - Clinical utility of assessing PTEN and ERG protein expression in prostate cancer patients: a proposed method for risk stratification.
Bismar Tarek A et al. Journal of cancer research and clinical oncology 2018 Aug - Medically underserved women in the Southeast rarely receive BRCA tests
VUMC Reporter, August 14, 2018 - Talazoparib in Patients with Advanced Breast Cancer and a Germline BRCA Mutation.
Litton Jennifer K et al. The New England journal of medicine 2018 Aug
Chronic Disease
- The value of genetic risk scores in precision medicine for diabetes
MI McCarthy et al, Expert Rev Precision Medicine and Drug Development, August 2018 - New NIH reference book is one-stop resource for diabetes medical information- “Diabetes in America” sheds light on national burden of diabetes.
NIH information, August 14, 2018 - Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations.
Khera Amit V et al. Nature genetics 2018 Aug - Gene therapy for neurological disorders: progress and prospects.
Deverman Benjamin E et al. Nature reviews. Drug discovery 2018 Aug - Personalized medicine in diabetic kidney disease: a novel approach to improve trial design and patient outcomes.
Idzerda Nienke M A et al. Current opinion in nephrology and hypertension 2018 Aug - Genetic susceptibility to delayed graft function following kidney transplantation: a systematic review of the literature.
Huart Justine et al. Clinical kidney journal 2018 Aug 11(4) 586-596 - Genetic Susceptibility to Neurodegeneration in Amazon: Apolipoprotein E Genotyping in Vulnerable Populations Exposed to Mercury.
Arrifano Gabriela P F et al. Frontiers in genetics 2018 9285 - Single-subject classification of presymptomatic frontotemporal dementia mutation carriers using multimodal MRI.
Feis Rogier A et al. NeuroImage. Clinical 2018 20188-196 - Return of individual results in epilepsy genomic research: A view from the field.
Ottman Ruth et al. Epilepsia 2018 Aug
Ethical, Legal and Social Issues (ELSI)
- Gene-silencing technology gets first drug approval after 20-year wait The US Food and Drug Administration's decision breathes new life into RNA-interference therapies.
H Ledford, Nature, August 10, 2018 - Delivering Patient Data to Patients Themselves.
Ancker Jessica S et al. EGEMS (Washington, DC) 2018 Jun 6(1) 16 - Introduction: the why and whither of genomic data sharing.
Knoppers B M et al. Human genetics 2018 Aug - Effort to Diversify Medical Research Raises Thorny Questions of Race
M Miller, Scientific American, August 10, 2018 - Including ELSI research questions in newborn screening pilot studies.
Goldenberg Aaron J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Aug - Biobanks and the Moral Concerns of Donors: A Democratic Deliberation.
De Vries Raymond G et al. Qualitative health research 2018 Aug 1049732318791826
General Practice
- The promise of personalized medicine is not for everyone,
The Conversation, August 13, 2018 - From Durham, The Future Of Clinical Research Looks A Lot Like Implementation Science
D Shaywitz, Forbes, August 9, 2018 - The Next Phase of Human Gene-Therapy Oversight.
Collins Francis S et al. The New England journal of medicine 2018 Aug - Individual risk prediction using data beyond the medical clinic.
Califf Robert M et al. CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne 2018 Aug 190(32) E947-E948 - Can Genetic Risk Scores Score a Win for Precision Prevention? Time and Rigorous Studies Will Tell
MJ Khoury, CDC blog, 2018 - The promise of genes for understanding cause and effect.
Conley Dalton et al. Proceedings of the National Academy of Sciences of the United States of America 2018 115(22) 5626-5628 - Generation and Implementation of a Patient-Centered and Patient-Facing Genomic Test Report in the EHR.
Goehringer Jessica M et al. EGEMS (Washington, DC) 2018 Jun 6(1) 14 - A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort.
Schwartz Marci L B et al. American journal of human genetics 2018 Jul - Mendelian Randomization International Conference
Mendelian Randomization MRC Integrative Epidemiology Unit, Bristol, UK, July 17-19, 2019 - Medical genetics in developing countries in the Asia-Pacific region: challenges and opportunities.
Thong Meow-Keong et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Aug - What education, background, and credentials are required to provide genetic counseling?
O'Brien Barbara M et al. Seminars in perinatology 2018 Jul - Considerations in initiating genomic screening programs in health care systems.
Williams Janet K et al. Nursing outlook 2018 Jul - Towards diversity in genomics: The emergence of neurogenomics in Africa?
Quansah Emmanuel et al. Genomics 2018 110(1) 1-9 - Predicting risk for common deadly diseases from millions of genetic variants
K Zusi, Broad Institute, August 13, 2018 - Individual risk prediction using data beyond the medical clinic.
Califf Robert M et al. CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne 2018 Aug 190(32) E947-E948 - What is Mendelian Randomization and How Can it be Used as a Tool for Medicine and Public Health? Opportunities and Challenges
CDC- NIH Public Health Genomics Webinar, November 27, 2018 - 35 Years & Growing: Personal Stories of Patient Advocacy
National Organization for Rare Diseases, 2018 - CRISPR in Sub-Saharan Africa: Applications and Education.
Ogaugwu Christian E et al. Trends in biotechnology 2018 Aug - Special issue on "Genomics for future medicine".
Chung Yeun-Jun et al. Experimental & molecular medicine 2018 Aug 50(8) 95 - Multigene test may find risk for heart disease, diabetes and breast cancer
Associated Press, August 13, 2018 - Precision Public Health and Genomic Medicine
Healthcare special supplement, 2018 - Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population.
Bauer Peter et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Aug - Lifestyle change as precision medicine
M Campos, Harvard Health Publishing, August 9, 2018 - Your data could cure you one day
by Linda Marsa, AAMC News, August 13, 2018
Heart, Lung, Blood and Sleep Diseases
- Clues to Your Health Are Hidden at 6.6 Million Spots in Your DNA With a sophisticated new algorithm, scientists have found a way to forecast an individual’s risks for five deadly diseases.
G Kolata, New York Times, August 13, 2018 - Local Woman Crusades Against a Hidden Killer Which Science Now Makes Easier to Detect- Pasadena Group touts early detection of a genetic mutation which turns out to be among the most common genetic causes of heart disease
B Day et al, Pasadena Now, AUgust 9, 2018 - Effectiveness of a comprehensive educational programme for Accredited Social Health Activists (ASHAs) to identify individuals in the Udupi district with bleeding disorders: A community-based survey.
Badagabettu S et al. Haemophilia : the official journal of the World Federation of Hemophilia 2018 Aug - Genetics of Dilated Cardiomyopathy: Clinical Implications.
Paldino A et al. Current cardiology reports 2018 Aug 20(10) 83 - The Cardiovascular Burden of Undiagnosed Familial Hypercholesterolemia: Need to Modify Guidelines to Encourage Earlier Diagnosis and Therapy.
McPherson Ruth et al. The Canadian journal of cardiology 2018 Jul - Clinical Course and Management of Hypertrophic Cardiomyopathy.
Maron Barry J et al. The New England journal of medicine 2018 Aug 379(7) 655-668 - They Thought Hemophilia Was a ‘Lifelong Thing.’ They May Be Wrong. Experimental gene therapies have yielded promising results in early trials. But the drugs have left some patients wary, worried that success will not last.
G Kolata, New York Times, August 13, 2018 - Family History of Cardiovascular Disease: How Detailed Should It Be?
Bittencourt Márcio Sommer et al. Mayo Clinic proceedings 2018 Aug - Physical activity restriction for children and adolescents diagnosed with an inherited arrhythmia or cardiomyopathy and its impact on body mass index.
Christian Susan et al. Journal of cardiovascular electrophysiology 2018 Aug - Guidance on the management of familial hypercholesterolaemia in Hong Kong: an expert panel consensus viewpoin.
Tomlinson B et al. Hong Kong medical journal = Xianggang yi xue za zhi 2018 Aug 24(4) 408-415 - RNA Therapeutics in Cardiovascular Precision Medicine.
Laina Ageliki et al. Frontiers in physiology 2018 9953 - A Harvard Scientist Thinks He Has a Gene Test for Heart Attack Risk. He Wants to Give It Away Free.
M Herper, Forbes, August 13, 2018
Newborn Screening
- The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.
Wasserstein Melissa P et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Aug - Paradigm shifts in newborn screening?
Comeau Anne Marie et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Aug
Pharmacogenomics
- A pharmacogenetics approach to pain management.
Yoshida Kaori et al. Neuropsychopharmacology reports 2018 Mar 38(1) 2-8 - Impact of CYP2C19 Polymorphism on Antiplatelet Potency of Prasugrel 5 and 10 mg Daily Maintenance.
Li JiaXin et al. Cardiology 2018 Aug 140(3) 155-162
Reproductive Health
- Current status and future prospects of noninvasive preimplantation genetic testing for aneuploidy.
Fragouli Elpida et al. Fertility and sterility 2018 Aug 110(3) 408-409 - Fertility preservation in BRCA-mutated women: when and how?
Grynberg Michaël et al. Future oncology (London, England) 2018 Feb 14(5) 483-490 - The Use of a Game-Based Decision Aid to Educate Pregnant Women about Prenatal Screening: A Randomized Controlled Study.
Rothwell Erin et al. American journal of perinatology 2018 Aug - The pros and cons of preimplantation genetic testing for aneuploidy: clinical and laboratory perspectives.
Rosenwaks Zev et al. Fertility and sterility 2018 Aug 110(3) 353-361 - Is preimplantation genetic testing for aneuploidy an essential tool for embryo selection or a costly 'add-on' of no clinical benefit?
Rosenwaks Zev et al. Fertility and sterility 2018 Aug 110(3) 351-352
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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