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
- Does maternal mental well-being in pregnancy impact the early human epigenome?
Ryan Joanne et al. Epigenomics 2017 Mar 9(3) 313-332
- Modeling strategy to identify patients with primary immunodeficiency utilizing risk management and outcome measurement.
Modell Vicki et al. Immunologic research 2017 Feb
- Rare Disease Day 2017: Talias Story
R Lewis, PLOS Blogs, February 2017
- Appropriate Use of Genetic Testing in Congenital Heart Disease Patients.
Ito Seiji et al. Current cardiology reports 2017 Mar 19(3) 24
- "Set in Stone" or "Ray of Hope": Parents' Beliefs About Cause and Prognosis After Genomic Testing of Children Diagnosed with ASD.
Reiff Marian et al. Journal of autism and developmental disorders 2017 Feb
- Ethnicity impacts the cystic fibrosis diagnosis: A note of caution.
Bosch Barbara et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2017 Feb
- The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results
D Baldridge et al, Genetics in Medicine, March 2, 2017
- 10 Years of Rare Disease Day.
Yáñez-Muñoz R J et al. Gene therapy 2017 Feb 24(2) 67
- Optimism on Rare Disease Day: With Research, Possibilities are Limitless
SP Denker, PLOS Blogs, February 2017
- A systematic review of the literature for severity predictors in children with sickle cell anemia.
Meier Emily Riehm et al. Blood cells, molecules & diseases 2017 Feb
- Advice from the Rare Disease Community
Genome Magazine, February 28, 2017
- Sickle Cell Disease: A Brief Update.
Azar Sharl et al. The Medical clinics of North America 2017 Mar 101(2) 375-393
- Epigenetics studies of fetal alcohol spectrum disorder: where are we now?
Lussier Alexandre A et al. Epigenomics 2017 Mar 9(3) 291-311
- Gene Therapy in a Patient with Sickle Cell Disease.
Ribeil Jean-Antoine et al. The New England journal of medicine 2017 Mar 376(9) 848-855
- Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study.
et al. JAMA oncology 2017 Feb
- [Genetic Counseling of HBOC and Japanese Organization of HBOC].
Fukushima Yoshimitsu et al. Gan to kagaku ryoho. Cancer & chemotherapy 2017 Feb 44(2) 107-110
- [Clinical Management of HBOC in Our Hospital].
Nomura Hidetaka et al. Gan to kagaku ryoho. Cancer & chemotherapy 2017 Feb 44(2) 116-120
- Designing clinical and genetic guidelines of colorectal cancer screening as an effective roadmap for risk management.
Zali Mohammad Reza et al. Gastroenterology and hepatology from bed to bench 2016 Dec 9(Suppl1) S53-S61
- Retrospective review of genomic testing in breast cancer: Does it improve outcome?
Gastelum Grady M et al. Breast cancer research and treatment 2017 Feb
- Oncologist and organizational factors associated with variation in breast cancer multigene testing.
Lieu Tracy A et al. Breast cancer research and treatment 2017 Feb
- Personalized medicine for prevention: can risk stratified screening decrease colorectal cancer mortality at an acceptable cost?
Subramanian Sujha et al. Cancer causes & control : CCC 2017 Feb
- Payer Coverage for Hereditary Cancer Panels: Barriers, Opportunities, and Implications for the Precision Medicine Initiative.
Trosman Julia R et al. Journal of the National Comprehensive Cancer Network : JNCCN 2017 Feb 15(2) 219-228
- March is Colorectal Cancer Awareness Month -- Do You Know About Lynch Syndrome?
G Hurst Blog post, Ambry Genetics, March 2, 2017
- Initial Diagnostic Workup of Acute Leukemia: Guideline From the College of American Pathologists and the American Society of Hematology.
Arber Daniel A et al. Archives of pathology & laboratory medicine 2017 Feb
- Implications of SDHB genetic testing in patients with sporadic pheochromocytoma.
Maignan Aurelie et al. Langenbeck's archives of surgery 2017 Feb
- Pedigree and BRCA gene analysis in breast cancer patients to identify hereditary breast and ovarian cancer syndrome to prevent morbidity and mortality of disease in Indian population.
Darooei Mina et al. Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine 2017 Feb 39(2) 1010428317694303
- Evidence of Stage Shift in Women Diagnosed With Ovarian Cancer During Phase II of the United Kingdom Familial Ovarian Cancer Screening Study.
Rosenthal Adam N et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2017 Feb JCO2016699330
- Molecular Screening for Lynch Syndrome in Young Patients With Colorectal Adenomas.
Mendelsohn Robin B et al. Clinical colorectal cancer 2017 Feb
- Breast cancer-specific survival in patients with lymph node-positive hormone receptor-positive invasive breast cancer and Oncotype DX Recurrence Score results in the SEER database.
Roberts Megan C et al. Breast cancer research and treatment 2017 Feb
- Factors that could influence women's participation in colorectal cancer screening: an Italian study.
Bocci G et al. Annali di igiene : medicina preventiva e di comunita 29(2) 151-160
- Quantitation of Targetable Somatic Mutations among Patients Evaluated by a Personalized Medicine Clinical Service: Considerations for Off-Label Drug Use.
Vela Cory M et al. Pharmacotherapy 2017 Feb
- Utility of comprehensive genomic sequencing for detecting HER2-positive colorectal cancer.
Shimada Yoshifumi et al. Human pathology 2017 Feb
- Intervention Mediators in a Randomized Controlled Trial to Increase Colonoscopy Uptake Among Individuals at Increased Risk of Familial Colorectal Cancer.
Brumbach Barbara H et al. Annals of behavioral medicine : a publication of the Society of Behavioral Medicine 2017 Feb
- Can an educational application increase risk perception accuracy amongst patients attending a high-risk breast cancer clinic?
Keohane D et al. Breast (Edinburgh, Scotland) 2017 Feb 32192-198
- What Are the Risk Factors for Colorectal Cancer?
- Colorectal Cancer Awareness
- Test Feasibility of Next-Generation Sequencing Assays in Clinical Mutation Detection of Small Biopsy and Fine Needle Aspiration Specimens.
Zheng Gang et al. American journal of clinical pathology 2016 May 145(5) 696-702
- HER2 Testing and Clinical Decision Making in Gastroesophageal Adenocarcinoma: Guideline From the College of American Pathologists, American Society for Clinical Pathology, and American Society of Clinical Oncology.
Bartley Angela N et al. American journal of clinical pathology 2016 Dec 146(6) 647-669
- Genetics of schizophrenia: A consensus paper of the WFSBP Task Force on Genetics.
Giegling Ina et al. The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry 2017 Jan 1-14
- A review of the biomedical innovations for healthy longevity.
Moskalev Alexey et al. Aging 2017 Jan 9(1) 7-25
- Highly prevalent gene variants in minority populations cause kidney disease
Science Magazine, March 1, 2017
- Genetic Testing for Obesity: Implications and Challenges.
Segal Mary et al. Current obesity reports 2017 Feb
- Race, Genomics and Chronic Disease: What Patients with African Ancestry Have to Say.
Horowitz Carol R et al. Journal of health care for the poor and underserved 2017 28(1) 248-260
- Epigenetic Mechanisms of Longevity and Aging.
Sen Payel et al. Cell 2016 Aug 166(4) 822-39
- Changes in RNA splicing: a new mechanism for genetic risk in schizophrenia
Science Magazine, February 27, 2017
- Genomic Analysis in the Practice of Surgical Neuropathology: The Emory Experience.
Neill Stewart G et al. Archives of pathology & laboratory medicine 2017 Mar 141(3) 355-365
- Contribution of Neuroepigenetics to Huntington's Disease.
Francelle Laetitia et al. Frontiers in human neuroscience 2017 1117
- Understanding Human Autoimmunity and Autoinflammation Through Transcriptomics.
Banchereau Romain et al. Annual review of immunology 2017 Jan
- Molecular Imaging Markers to Track Huntington's Disease Pathology.
Wilson Heather et al. Frontiers in neurology 2017 811
- Modern Genome Editing Technologies in Huntington's disease Research.
Malankhanova Tuyana Bairovna et al. Journal of Huntington's disease 2017 Jan
- The genetics of exceptional longevity identifies new druggable targets for vascular protection and repair.
Puca Annibale A et al. Pharmacological research 2016 Dec 114169-174
- Molecular genetics of human obesity: A comprehensive review.
Singh Rajan Kumar et al. Comptes rendus biologies 2017 Feb 340(2) 87-108
- Update on the 22q11.2 deletion syndrome and its relevance to schizophrenia.
Van Lily et al. Current opinion in psychiatry 2017 Feb
- The Major Histocompatibility Complex (MHC) in Schizophrenia: A Review.
Mokhtari Ryan et al. Journal of clinical & cellular immunology 2016 Dec 7(6)
Ethics, Policy and Law
- Protecting Patients from Genetic Discrimination
JA Krish, the Scientist, March 2017
- Genetic Testing Thriving, But Law Lags Behind,
by Sean Livesey, Richmond Journal of Law & Technology, February 24, 2017
Genomics in Practice
- Effects of the in utero environment on the epigenome.
Saffery Richard et al. Epigenomics 2017 Mar 9(3) 209-211
- Accelerators: Sparking Innovation and Transdisciplinary Team Science in Disparities Research.
Horowitz Carol R et al. International journal of environmental research and public health 2017 Feb 14(3)
- How bioinformatics tools are bringing genetic analysis to the masses
JM Perkel, Nature News, February 28, 2017
- Standards for the Reporting of Genetic Counseling Interventions in Research and Other Studies (GCIRS): an NSGC Task Force Report.
Hooker Gillian W et al. Journal of genetic counseling 2017 Feb
- Improving nurse practitioners' competence with genetics: Effectiveness of an online course.
Whitt Karen J et al. Journal of the American Association of Nurse Practitioners 2016 Mar 28(3) 151-9
- Clinical evaluation of a hemochromatosis next-generation sequencing gene panel.
Lanktree Matthew B et al. European journal of haematology 2017 Mar 98(3) 228-234
- Precision medicine needs randomized clinical trials.
Saad Everardo D et al. Nature reviews. Clinical oncology 2017 Feb
- Genomics literacy critical to San Diego and nation
F DeSouza, San Diego Tribune, March 2, 2017
- ScreenPro FH - Screening Project for Familial Hypercholesterolemia in Central, Southern and Eastern Europe: Rationale and Design.
Ce?ka Richard et al. Vnitrni lekarstvi 2017 63(1) 43-48
- Utility of Genetic Testing in Elite Volleyball Players with Aortic Root Dilation.
Herrick Nicole et al. Medicine and science in sports and exercise 2017 Feb
- Genetics and genomics of dilated cardiomyopathy and systolic heart failure.
Tayal Upasana et al. Genome medicine 2017 Feb 9(1) 20
- Georgia Bill Lets Newborns' Parents Test for Genetic Disease,
US News, February 24, 2017
- Genomic newborn screening: public health policy considerations and recommendations.
Friedman Jan M et al. BMC medical genomics 2017 Feb 10(1) 9
- Bioinformatics Approaches for Fetal DNA Fraction Estimation in Noninvasive Prenatal Testing.
Peng Xianlu Laura et al. International journal of molecular sciences 2017 Feb 18(2)
- Recommendations for the use of microarrays in prenatal diagnosis.
Suela Javier et al. Medicina clinica 2017 Feb
- Committee Opinion No. 690 Summary: Carrier Screening in the Age of Genomic Medicine.
et al. Obstetrics and gynecology 2017 Mar 129(3) 595-596
- Committee Opinion No. 691 Summary: Carrier Screening for Genetic Conditions.
et al. Obstetrics and gynecology 2017 Mar 129(3) 597-599
- Integrating Microarrays into Routine Prenatal Diagnosis: Determinants of Decision Making.
Cordoba Marcos et al. Fetal diagnosis and therapy 2016 40(2) 135-40
- Committee Opinion No. 690: Carrier Screening in the Age of Genomic Medicine.
et al. Obstetrics and gynecology 2017 Mar 129(3) e35-e40
- Pharmacogenetics in cardiovascular diseases: State of the art and implementation-recommendations of the French National Network of Pharmacogenetics (RNPGx).
Lamoureux Fabien et al. Therapie 2017 Jan
- Primary care providers' use of pharmacist support for delivery of pharmacogenetic testing.
Haga Susanne B et al. Pharmacogenomics 2017 Mar 18(4) 359-367
- The Routine Clinical use of Pharmacogenetic Tests: What it Will Require?
Dias Mafalda M et al. Pharmaceutical research 2017 Feb
- Pharmacogenetics of antidepressant drugs: State of the art and clinical implementation - recommendations from the French National Network of Pharmacogenetics.
Quaranta Sylvie et al. Therapie 2017 Jan
- Pharmacogenetics-based personalized therapy: Levels of evidence and recommendations from the French Network of Pharmacogenetics (RNPGx).
Picard Nicolas et al. Therapie 2017 Jan
- Economic Utility: Combinatorial Pharmacogenomics and Medication Cost Savings for Mental Health Care in a Primary Care Setting.
Brown Lisa C et al. Clinical therapeutics 2017 Feb
- Epigenetic signals of how social disadvantage "gets under the skin": a challenge to the public health community.
Shields Alexandra E Epigenomics 2017 3 0. (3) 223-229.
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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