Publication Date: Feb 8, 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
- The DNA database that is key to beating our rarest diseases,
The Guardian, February 3, 2018 - Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia.
Wu Lily et al. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2018 Jan 1-7 - Parental attitudes and expectations towards receiving genomic test results in healthy children.
Kulchak Rahm Alanna et al. Translational behavioral medicine 2018 Jan 8(1) 44-53 - The relevance of gene panels in movement disorders diagnosis: A lab perspective.
Reale Chiara et al. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2018 Jan - A database for screening and registering late onset Pompe disease in Turkey.
Gokyigit Munevver Celik et al. Neuromuscular disorders : NMD 2017 Dec - Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach.
Fernandez Bridget A et al. Dialogues in clinical neuroscience 2017 Dec 19(4) 353-371 - The Cost of a Cure: Sticker shock fuels uncertainty over access to gene therapies even among insured.
G Uyeno, Genome Magazine, Feb 2018 - Study of first-graders shows fetal alcohol spectrum disorders prevalent in U.S. communities
NIH Research Matters, Feb 6, 2018 - Translational research to enable personalized treatment of cystic fibrosis.
Hagemeijer Marne C et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2017 Dec - Utility of Genetic Testing in Fetal Alcohol Spectrum Disorder.
Jamuar Saumya S et al. The Journal of pediatrics 2018 Feb - Cystic Fibrosis: Lungs’ Bacterial Population Changes in the First Few Years of Life
Frontline Genetics, Feb 7, 2018 - Paediatric genomics: diagnosing rare disease in children.
Wright Caroline F et al. Nature reviews. Genetics 2018 Feb - [Changes in clinical practice related to the arrival of next-generation sequencing in the genetic diagnosis of developmental diseases].
Demougeot L et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2018 Jan - Now You Can Genetically Test Your Child For Disease Risks. Should You?
By Sarah Elizabeth Richards, Smithsonian.com, February 5, 2018 - Considerations in healthcare reform for patients and families with genetic diseases: a statement of the American College of Medical Genetics and Genomics.
et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Feb - Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.
Ashton Emma J et al. Kidney international 2018 Feb - Engaging a Community for Rare Genetic Disease: Best Practices and Education From Individual Crowdfunding Campaigns.
Ortiz Romina Alicia et al. Interactive journal of medical research 2018 Feb 7(1) e3 - The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers.
Gainotti Sabina et al. European journal of human genetics : EJHG 2018 Feb
Cancer
- Integrating the Genetics of Race and Ethnicity Into Cancer Research: Trailing Jane and John Q. Public.
Newman Lisa A et al. JAMA surgery 2018 Jan - Impact of genomic alterations on lapatinib treatment outcome and cell-free genomic landscape during HER2 therapy in HER2-positive gastric cancer patients.
Kim S T et al. Annals of oncology : official journal of the European Society for Medical Oncology 2018 Feb - Personalized medicine in colorectal cancer diagnosis and treatment: a systematic review of health economic evaluations.
Guglielmo Annamaria et al. Cost effectiveness and resource allocation : C/E 2018 162 - Hereditary gastrointestinal carcinomas and their precursors: An algorithm for genetic testing.
Spoto Clothaire P E et al. Seminars in diagnostic pathology 2018 Jan - Talking with Children About Adult-Onset Hereditary Cancer Risk: A Developmental Approach for Parents.
Werner-Lin Allison et al. Journal of genetic counseling 2018 Jan - Screening for Lynch syndrome using risk assessment criteria in patients with ovarian cancer.
Takeda Takashi et al. Journal of gynecologic oncology 2018 Jan - Preferences for learning different types of genome sequencing results among young breast cancer patients: Role of psychological and clinical factors.
Kaphingst Kimberly A et al. Translational behavioral medicine 2018 Jan 8(1) 71-79 - Development of a personalized therapeutic strategy for ERBB-gene-mutated cancers.
Milewska Malgorzata et al. Therapeutic advances in medical oncology 2018 101758834017746040 - Impact of BRCA Mutation Status on Survival of Women With Triple-negative Breast Cancer.
Yadav Siddhartha et al. Clinical breast cancer 2017 Dec - Molecular Testing Guideline for the Selection of Patients With Lung Cancer for Treatment With Targeted Tyrosine Kinase Inhibitors: American Society of Clinical Oncology Endorsement of the College of American Pathologists/International Association for the Study of Lung Cancer/Association for Molecular Pathology Clinical Practice Guideline Update.
Kalemkerian Gregory P et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018 Feb JCO2017767293 - BRCA Breast Cancer Patients Finally Have a Non-Chemotherapy Treatment Option
D Sabin, Genome Magazine, Feb 2018 - Association of Polygenic Risk Scores for Multiple Cancers in a Phenome-wide Study: Results from The Michigan Genomics Initiative
LG Fritsche et al. BioRXIV preprints, Feb 3, 2018 - Clinical Utility of a Diagnostic Approach to Detect Genetic Abnormalities in Multiple Myeloma: A Single Institution Experience.
Jung Hyun Ae et al. Annals of laboratory medicine 2018 May 38(3) 196-203 - Breast Cancer Screening in the High-risk Population.
Vecchio Mary M et al. Asia-Pacific journal of oncology nursing 5(1) 46-50 - RAS mutation testing in patients with metastatic colorectal cancer in French clinical practice: A status report in 2014.
Lièvre Astrid et al. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2018 Jan - Practical guide for the comparison of two next-generation sequencing systems for solid tumour analysis in a universal healthcare system.
Maxwell Perry et al. Journal of clinical pathology 2018 Jan - Liquid Biopsy in Prostate Cancer: A Case for Comprehensive Genomic Characterization of Circulating Tumor Cells.
Boral Debasish et al. Clinical chemistry 2018 Feb 64(2) 251-253 - Communication of cancer-related genetic and genomic information: A landscape analysis of reviews.
Peterson Emily B et al. Translational behavioral medicine 2018 Jan 8(1) 59-70 - Genetic test reporting of CDKN2A provides informational and motivational benefits for managing melanoma risk.
Aspinwall Lisa G et al. Translational behavioral medicine 2018 Jan 8(1) 29-43 - It's Been Five Years Since My Diagnosis Of Breast Cancer And I'm Only Just Beginning To Move On - If I live, I'll be the first generation in the history of my family to have survived not just one, but two, cancer diagnoses
Huffington Post Blog, Feb 5, 2018 - Updated Molecular Testing Guideline for the Selection of Lung Cancer Patients for Treatment With Targeted Tyrosine Kinase Inhibitors: Guideline From the College of American Pathologists, the International Association for the Study of Lung Cancer, and the Association for Molecular Pathology.
Lindeman Neal I et al. The Journal of molecular diagnostics : JMD 2018 Jan - Molecular subtyping of breast cancer improves identification of both high and low risk patients.
Rossing Maria et al. Acta oncologica (Stockholm, Sweden) 2018 Jan 57(1) 58-66 - Feasibility study to assess the impact of a lifestyle intervention ('LivingWELL') in people having an assessment of their family history of colorectal or breast cancer.
Anderson Annie S et al. BMJ open 2018 Feb 8(2) e019410 - "Guys Don't Have Breasts": The Lived Experience of Men Who Have BRCA Gene Mutations and Are at Risk for Male Breast Cancer.
Skop Michelle et al. American journal of men's health 2018 Feb 1557988317753241 - Endoscopic screening for hereditary diffuse gastric cancer: one size does not fit all.
de Almeida Artifon Everson Luiz et al. Gastrointestinal endoscopy 2018 Feb 87(2) 405-407 - Inheritance Matters: The Race to Prevent New Ovarian Cancer Cases
SC. Modesitt, Onc Live, Feb 1, 2018 - 7 Things YOU Can Do to Prevent Cancer
Look in your genes. Your family's health and cancer history can affect you now and in the future. - Current concepts in molecular genetics and management guidelines for pancreatic cystic neoplasms: an essential update for radiologists.
Kulzer Matthew et al. Abdominal radiology (New York) 2018 Feb - Physical activity during adolescence and young adulthood and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers.
Lammert Jacqueline et al. Breast cancer research and treatment 2018 Feb - Germline promoter hypermethylation in BRCA1 and BRCA2 genes is not present in hereditary breast cancer patients.
Rodríguez-Balada M et al. Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2018 Feb - Study Finds Biological Differences in Lung Tumors of African Americans and Whites
NCI Blog, Jan 2018 - "Second-Class Status?" Insight into Communication Patterns and Common Concerns Among Men with Hereditary Breast and Ovarian Cancer Syndrome.
Suttman Alexandra et al. Journal of genetic counseling 2018 Feb - Increasing genetic counseling referral rates through bundled interventions after ovarian cancer diagnosis.
Swanson Casey L et al. Gynecologic oncology 2018 Feb - Strongly enhanced colorectal cancer risk stratification by combining family history and genetic risk score.
Weigl Korbinian et al. Clinical epidemiology 2018 10143-152
Chronic Disease
- RNA-Targeted Therapies and Amyotrophic Lateral Sclerosis.
Mathis Stéphane et al. Biomedicines 2018 Jan 6(1) - Creative Minds: Building Better Computational Models of Common Disease
NIH Director's Blog, Feb 8, 2018 - A transcript-wide association study in physical activity intervention implicates molecular pathways in chronic disease
K Claypool et al, BIORxIV, Feb 5, 2018 - Motor Neuron Gene Therapy: Lessons from Spinal Muscular Atrophy for Amyotrophic Lateral Sclerosis.
Tosolini Andrew P et al. Frontiers in molecular neuroscience 2017 10405 - Probability of Positive Genetic Testing Results in Patients with Family History of Primary Hyperparathyroidism.
El Lakis Mustapha et al. Journal of the American College of Surgeons 2018 Feb - The Promise and Pitfalls of Facebook Advertising: a Genetic Counselor's Perspective.
Verbrugge Jennifer et al. Journal of genetic counseling 2018 Feb - Alpha-Adrenergic Receptors in PTSD - Failure or Time for Precision Medicine?
Ressler Kerry J et al. The New England journal of medicine 2018 Feb 378(6) 575-576 - The prospects of CRISPR-based genome engineering in the treatment of neurodegenerative disorders.
Shin Jun Wan et al. Therapeutic advances in neurological disorders 2018 111756285617741837 - Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach.
Córdoba Marta et al. PloS one 2018 13(2) e0191228 - Living with a Rare Health Condition: The Influence of a Support Community and Public Stigma on Communication, Stress, and Available Support.
Zhu Xun et al. Journal of applied communication research : JACR 2017 45(2) 179-198 - Advances in Understanding the Molecular Basis of the Mediterranean Diet Effect.
Corella Dolores et al. Annual review of food science and technology 2018 Jan - Patient communication of cancer genetic test results in a diverse population.
Ricker Charité N et al. Translational behavioral medicine 2018 Jan 8(1) 85-94 - The Value of Genetic Testing in Polycystic Kidney Diseases Illustrated by a Family With PKD2 and COL4A1 Mutations.
Cornec-Le Gall Emilie et al. American journal of kidney diseases : the official journal of the National Kidney Foundation 2018 Jan - Apolipoprotein E variants and genetic susceptibility to combat-related post-traumatic stress disorder: a meta-analysis.
Roby Yang et al. Psychiatric genetics 2017 Aug 27(4) 121-130 - Making pretest genomic counseling optional: lessons from the RAVE study.
Sutton Erica J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Feb
Ethical, Legal and Social Issues (ELSI)
- Is It Ethical to Test Apparently "Healthy" Children for Autosomal Dominant Polycystic Kidney Disease and Risk Medicalizing Thousands?
Harris Tess et al. Frontiers in pediatrics 2017 5291 - Reconsidering the duty to warn genetically at-risk relatives.
Rothstein Mark A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Feb - Outer Limits of Biotechnologies: A Jewish Perspective.
Loike John D et al. Rambam Maimonides medical journal 2018 Jan 9(1) - A search for insomnia genes involving 1.3 million people is the largest genetic study ever
A Regalado, MIT Tech Review, Feb 2,2018
General Practice
- Is "Precision Medicine" Ready to Use in Primary Care Practice? No: It Is Barely Ready for Testing
V Prasad et al., Am Fam Physician, Dec 2017 - Introduction to the Special Issue on Clinical and Public Health Genomics: Opportunities for translational behavioral medicine research, practice, and policy.
Graves Kristi D et al. Translational behavioral medicine 2018 Jan 8(1) 4-6 - The impact of raw DNA availability and corresponding online interpretation services: A mixed-methods study.
Allen Caitlin G et al. Translational behavioral medicine 2018 Jan 8(1) 105-112 - The research participant perspective related to the conduct of genomic cohort studies: A systematic review of the quantitative literature.
Goodman Deborah et al. Translational behavioral medicine 2018 Jan 8(1) 119-129 - Social and behavioral science priorities for genomic translation.
Koehly Laura M et al. Translational behavioral medicine 2018 Jan 8(1) 137-143 - Growing Pains
K Stoll, DNA Exchange, Feb 2, 2018 - On the importance of engaging both scientists and our communities in spreading awareness of personalized genetic technologies
Genes to Genomes, Feb 7, 2018 - Role of genetic polymorphism in nutritional supplementation therapy in personalized medicine.
Penes Nicolae Ovidiu et al. Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie 2017 58(1) 53-58 - Judging DNA Day Essay Submissions: A Look Inside the Process
ASHG Blog Post, Feb 8, 2018 - Personal Genome Project Canada Makes Case for WGS in Healthcare
Clinical Omics, Feb 5, 2018 - Is "Precision Medicine" Ready to Use in Primary Care Practice? Yes: It Offers Patients More Individualized Ways of Managing Their Health
W Greg Feero, Am Fam Physician, Dec 2017 - Sequencing Human Genome with Pocket-Sized "Nanopore" Device
NIH Director's blog, Feb 6, 2018 - Cloud computing for genomic data analysis and collaboration.
Langmead Ben et al. Nature reviews. Genetics 2018 Jan - Translation research to apply genomics to improve health promotion: Is it worth the investment?
McBride Colleen M et al. Translational behavioral medicine 2018 Jan 8(1) 54-58 - Data and medicine: A revolution in health care is coming- Welcome to Doctor You
The Economist, Feb 1, 2018 - Moving knowledge into action for more effective practice, programmes and policy: protocol for a research programme on integrated knowledge translation
ID Graham et al. Imp Science, Feb 2, 2018 - Cracks in the code: Why mapping your DNA may be less reliable than you think
C Abraham, the Globe and Mail, Feb 3, 2018 - Population-Wide Genetic Risk Prediction of Complex Diseases: A Pilot Feasibility Study in Macau Population for Precision Public Healthcare Planning.
Tsui Nancy B Y et al. Scientific reports 2018 Jan 8(1) 1853 - What Does Personalized Medicine Really Mean?
L Esposito, US News, Jan 26, 2018 - Nursing genetics and genomics: The International Society of Nurses in Genetics (ISONG) survey.
Hickey Kathleen T et al. Nurse education today 2018 Jan 6312-17 - Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics.
Ardui Simon et al. Nucleic acids research 2018 Feb - Future perspectives of genome-scale sequencing.
Steyaert Wouter et al. Acta clinica Belgica 2018 Feb 73(1) 7-10 - Effect of co-payment on behavioral response to consumer genomic testing.
Liu Wendy et al. Translational behavioral medicine 2018 Jan 8(1) 130-136 - Precision medicine in the treatment of primary immunodeficiency diseases.
Leiding Jennifer W et al. Current opinion in allergy and clinical immunology 2018 Feb
Heart, Lung, Blood and Sleep Diseases
- February is American Heart Month
- A comparative analysis of phenotypic predictors of mutations in familial hypercholesterolemia.
Chan Dick C et al. The Journal of clinical endocrinology and metabolism 2018 Feb - Lessons from ten years of genome-wide association studies of asthma.
Vicente Cristina T et al. Clinical & translational immunology 2017 Dec 6(12) e165 - Casey's Story – A Family History of Heart Disease
the FH Foundation, Jan 2018 - Lipoprotein profile assessed by 2D-1H-NMR and subclinical atherosclerosis in children with familial hypercholesterolaemia.
Rodríguez-Borjabad Cèlia et al. Atherosclerosis 2018 Jan 270117-122 - Cystic Fibrosis and C. Diff : A Dangerous Combination
CDC Safe Healthcare Blog Post, 2017 - Heart disease risk information, encouragement, and physical activity among Mexican-origin couples: Self- or spouse-driven change?
Skapinsky Kaley F et al. Translational behavioral medicine 2018 Jan 8(1) 95-104 - How to Control Asthma with Personalized Management: Where Do We Stand Now?
Wang Meng et al. Current drug metabolism 2018 Jan - A 3-gene panel improves the prediction of left ventricular dysfunction after acute myocardial infarction.
Boileau Adeline et al. International journal of cardiology 2018 Mar 25428-35 - Lomitapide in homozygous familial hypercholesterolemia: cardiology perspective from a single-center experience.
Sperlongano Simona et al. Journal of cardiovascular medicine (Hagerstown, Md.) 2018 Mar 19(3) 83-90 - The cost-effectiveness of screening strategies for familial hypercholesterolaemia in Poland.
Pelczarska Aleksandra et al. Atherosclerosis 2018 Jan 270132-138 - Familial hypercholesterolemia: experience from France.
Rabès Jean-Pierre et al. Current opinion in lipidology 2018 Jan - Disclosure of Cardiac Variants of Uncertain Significance Results in an Exome Cohort.
Lawal T A et al. Clinical genetics 2018 Jan - Asthma in children: Working together to get it under control
CDC Vital Signs, Feb 2018 - Impact of family history of coronary artery disease on in-hospital clinical outcomes in ST-segment myocardial infarction.
Agarwal Manyoo A et al. Annals of translational medicine 2018 Jan 6(1) 3 - An Evaluation of the Cost-effectiveness of Comprehensive MTM Integrated with Point-of-Care Phenotypic and Genetic Testing for U.S. Elderly Patients After Percutaneous Coronary Intervention.
Okere Arinze Nkemdirim et al. Journal of managed care & specialty pharmacy 2018 Feb 24(2) 142-152 - CYP2C19 and ABCB1 genetic polymorphisms correlate with the recurrence of ischemic cardiovascular adverse events after clopidogrel treatment.
Hou Xumin et al. Journal of clinical laboratory analysis 2018 Feb - Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias.
Russo Roberta et al. American journal of hematology 2018 Feb - An update on new and emerging therapies for cystic fibrosis.
Hudock Kristin M et al. Expert opinion on emerging drugs 2017 Dec 22(4) 331-346
Newborn Screening
- Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease.
Kwon Jennifer M et al. Orphanet journal of rare diseases 2018 Feb 13(1) 30 - Shared decision making: Implications for return of results from whole-exome and whole-genome sequencing.
Vadaparampil Susan T et al. Translational behavioral medicine 2018 Jan 8(1) 80-84 - Causative Genes in Amyotrophic Lateral Sclerosis and Protein Degradation Pathways: a Link to Neurodegeneration.
Maurel C et al. Molecular neurobiology 2018 Jan - A comparison of views regarding the use of de-identified data.
Goodman Deborah et al. Translational behavioral medicine 2018 Jan 8(1) 113-118
Pharmacogenomics
- Factors influencing the impact of pharmacogenomic prescribing on adherence to nicotine replacement therapy: A qualitative study of participants from a randomized controlled trial.
Wright Alison J et al. Translational behavioral medicine 2018 Jan 8(1) 18-28 - Pharmacokinetic and pharmacodynamic re-evaluation of a genetic-guided warfarin trial.
Zambon Carlo Federico et al. European journal of clinical pharmacology 2018 Feb - Pharmacoeconomics of genotyping-based treatment decisions in patients with chronic pain.
Morlock Robert et al. Pain reports 2017 Sep 2(5) e615 - A brief review of the genetics and pharmacogenetics of opioid use disorders.
Berrettini Wade et al. Dialogues in clinical neuroscience 2017 Sep 19(3) 229-236 - Estimating cost savings of pharmacogenetic testing for depression in real-world clinical settings.
Maciel Alejandra et al. Neuropsychiatric disease and treatment 2018 14225-230 - CDC Rx Awareness Campaign
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6 and Tamoxifen Therapy.
Goetz Matthew P et al. Clinical pharmacology and therapeutics 2018 Jan - New international practice guidelines for tamoxifen treatment based on CYP2D6 genotype
Mayo Clinic, Feb 2018 - P450 Pharmacogenetics in Indigenous North American Populations.
Henderson Lindsay M et al. Journal of personalized medicine 2018 Feb 8(1) - Clinical Pharmacogenetics Implementation Consortium Guideline for HLA Genotype and Use of Carbamazepine and Oxcarbazepine: 2017 Update.
Phillips Elizabeth J et al. Clinical pharmacology and therapeutics 2018 Feb - From pharmacogenomics to pharmaco-omics - individualized care for every patient
S Rosen, Mayo Clinic, Individualized Medicine Blog, 2017 - Pharmacogenomic Impact of CYP2C19 Variation on Clopidogrel Therapy in Precision Cardiovascular Medicine.
Brown Sherry-Ann et al. Journal of personalized medicine 2018 Jan 8(1)
Reproductive Health
- Effect of knowledge on women's likely uptake of and willingness to pay for non-invasive test (NIPT).
Lo Tsz-Kin et al. European journal of obstetrics, gynecology, and reproductive biology 2018 Jan - Exome and genome sequencing in reproductive medicine.
Normand Elizabeth A et al. Fertility and sterility 2018 Jan
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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