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
- Clinical utility gene card for: B4GALT7-defective congenital disorder of glycosylation.
Jaeken Jaak et al. European journal of human genetics : EJHG 2016 Nov - Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease.
Llerena Junior Juan Clinton et al. Arquivos de neuro-psiquiatria 2016 Feb 74(2) 166-76 - Is There a Right Time to Know? The Right Not to Know and Genetic Testing in Children.
Borry Pascal et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2014 42(1) 19-27
Cancer
- KRAS mutations in the circulating free DNA (cfDNA) of non-small cell lung cancer (NSCLC) patients.
Garzón Mónica et al. Translational lung cancer research 2016 Oct 5(5) 511-516 - Why Is Cancer Genetic Counseling Underutilized by Women Identified as at Risk for Hereditary Breast Cancer? Patient Perceptions of Barriers Following a Referral Letter.
Kne Alyssa et al. Journal of genetic counseling 2016 Nov - Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands.
Dommering Charlotte J et al. Familial cancer 2016 Nov - Colonoscopy in Lynch syndrome: the need for a new quality score.
Boonstra Jurjen J et al. Familial cancer 2016 Nov - Cancer screening behaviors and risk perceptions among family members of colorectal cancer patients with unexplained mismatch repair deficiency.
Katz Lior H et al. Familial cancer 2016 Nov - Health Economic Impact and Prospective Clinical Utility of Oncotype DX® Genomic Prostate Score.
Albala David et al. Reviews in urology 2016 18(3) 123-132 - The Psychosocial Impact of Undergoing Prophylactic Total Gastrectomy (PTG) to Manage the Risk of Hereditary Diffuse Gastric Cancer (HDGC).
Hallowell Nina et al. Journal of genetic counseling 2016 Nov - Effect on perceived control and psychological distress of genetic knowledge in women with breast cancer receiving a BRCA1/2 test result.
Brédart Anne et al. Breast (Edinburgh, Scotland) 2016 Nov 31121-127 - Current perspectives on recommendations for BRCA genetic testing in ovarian cancer patients.
Vergote Ignace et al. European journal of cancer (Oxford, England : 1990) 2016 Nov 69127-134 - Beyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer Genes.
Pesaran T et al. International journal of breast cancer 2016 20162469523 - Ohio Statewide Colon Cancer Initiative
- Time is running out to get a free cancer screening
R Murray, Dayton Daily News, November 14, 2016 - Molecular screening of intellectually disabled patients and those with premature ovarian failure for CGG repeat expansion at FMR1 locus: Implication of combined triplet repeat primed polymerase chain reaction and methylation-specific polymerase chain reaction analysis.
Muthuswamy Srinivasan et al. Neurology India 64(6) 1175-1179 - Genomic Disparities in Breast Cancer Among Latinas.
Lynce Filipa et al. Cancer control : journal of the Moffitt Cancer Center 2016 Oct 23(4) 359-372
Chronic Diseases
- Evaluating Adults With Idiopathic Pancreatitis for Genetic Predisposition: Higher Prevalence of Abnormal Results With Use of Complete Gene Sequencing.
Ballard Darren D et al. Pancreas 2015 Jan 44(1) 116-21 - Hopes and Expectations Regarding Genetic Testing for Schizophrenia Among Young Adults at Clinical High-Risk for Psychosis.
Friesen Phoebe et al. Journal of psychiatric practice 2016 Nov 22(6) 442-449
Ethics, Policy and Law
- The fiduciary relationship model for managing clinical genomic "incidental" findings.
Lázaro-Muñoz Gabriel et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2014 42(4) 576-89
Genomics in Practice
- The flip side of personal genomics: When a mutation doesn't spell disease
EC Hayden, Nature News, November 15, 2016 - Value judgments for priority setting criteria in genetic testing: a discrete choice experiment.
Severin Franziska et al. Health policy (Amsterdam, Netherlands) 2015 Feb 119(2) 164-73 - Using needs-based frameworks for evaluating new technologies: an application to genetic tests.
Rogowski Wolf H et al. Health policy (Amsterdam, Netherlands) 2015 Feb 119(2) 147-55 - Personalized medicine: CCO's vision, accomplishments and future plans.
Guo Jennifer et al. Healthcare quarterly (Toronto, Ont.) 2015 17 Spec No41-3 - Nutrigenomics 2.0: The Need for Ongoing and Independent Evaluation and Synthesis of Commercial Nutrigenomics Tests' Scientific Knowledge Base for Responsible Innovation.
Pavlidis Cristiana et al. Omics : a journal of integrative biology 2016 Feb 20(2) 65-8 - Geneticists should offer data to participants.
Nelson Sarah et al. Nature 2016 Nov 539(7627) 7 - Genetic Counseling Assistants: an Integral Piece of the Evolving Genetic Counseling Service Delivery Model.
Pirzadeh-Miller Sara et al. Journal of genetic counseling 2016 Nov - Economic evaluation in Genomic Medicine.
Hastings Rob et al. European journal of human genetics : EJHG 2016 Dec 24(12) 1831 - Private and Efficient Query Processing on Outsourced Genomic Databases.
Ghasemi Reza et al. IEEE journal of biomedical and health informatics 2016 Nov - Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics
ACMG, Genetics in Medicine, November 17, 2016 - Development, Implementation, and Assessment of a Genetics Curriculum Across Institutions.
Dotters-Katz Sarah et al. AJP reports 2016 Oct 6(4) e372-e377 - Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine.
Garber Kathryn B et al. American journal of human genetics 2016 Nov 99(5) 1140-1149 - Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.
Natarajan Pradeep et al. Science translational medicine 2016 Nov 8(364) 364ra151 - Will Unanticipated Genetic Mutations Lead to Subsequent Disease?
Brigham and Women's Hospital press release, November 9, 2016
Cardiovascular Diseases
- Statins for Prevention of Cardiovascular Disease in Adults: Evidence Report and Systematic Review for the US Preventive Services Task Force.
Chou Roger et al. JAMA 2016 Nov 316(19) 2008-2024 - Cholesterol, Cardiovascular Risk, Statins, PCSK9 Inhibitors, and the Future of LDL-C Lowering.
Rodriguez Fatima et al. JAMA 2016 Nov 316(19) 1967-1968 - The use of targeted exome sequencing in genetic diagnosis of young patients with severe hypercholesterolemia.
Jiang Long et al. Scientific reports 2016 Nov 636823 - Grey zones in cardiomyopathies: defining boundaries between genetic and iatrogenic disease.
Quarta Giovanni et al. Nature reviews. Cardiology 2016 Nov - Screening first-degree relatives of patients with idiopathic dilated cardiomyopathy.
Sefa Okten M et al. Herz 2016 Nov - Genetic Heart Disease Risk Eased by Healthy Habits, Study Finds
G Kolata, New York Times, November 11, 2016 - Genetic Risk, Adherence to a Healthy Lifestyle, and Coronary Disease
AV Khera et al, NEJM< November 12, 2016 - The prevalence and prognostic importance of possible familial hypercholesterolemia in patients with myocardial infarction.
Rerup Sofie Aagaard et al. American heart journal 2016 Nov 18135-42 - Statin Use for the Primary Prevention of Cardiovascular Disease in Adults: US Preventive Services Task Force Recommendation Statement.
et al. JAMA 2016 Nov 316(19) 1997-2007 - HEART UK statement on the management of homozygous familial hypercholesterolaemia in the United Kingdom.
France Michael et al. Atherosclerosis 2016 Nov - DNA Is Not Destiny When It Comes To Heart Risk
R Harris, NPR News, November 13, 2016
Newborn Screening
- Newborn screening: need of the hour in India.
Verma Ishwar C et al. Indian journal of pediatrics 2015 Jan 82(1) 61-70 - Repeated Screening Can Be Restricted to At-Genetic-Risk Birth Cohorts.
Björck Sara et al. Journal of pediatric gastroenterology and nutrition 2016 Feb 62(2) 271-5 - Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates.
Bodian Dale L et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Mar 18(3) 221-30 - Newborn testing and screening by whole-genome sequencing.
Kingsmore Stephen F et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Mar 18(3) 214-6 - The first Mongolian cases of phenylketonuria in selective screening of inborn errors of metabolism.
Purevsuren Jamiyan et al. Molecular genetics and metabolism reports 2016 Dec 971-74 - Newborn screening for Krabbe disease in New York State: the first eight years' experience.
Orsini Joseph J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Mar 18(3) 239-48 - Damaged goods?: an empirical cohort study of blood specimens collected 12 to 23 hours after birth in newborn screening in California.
Tang Hao et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Mar 18(3) 259-64 - International differences in the evaluation of conditions for newborn bloodspot screening: a review of scientific literature and policy documents.
Jansen Marleen E et al. European journal of human genetics : EJHG 2016 Nov - Differences in Outcomes between Early and Late Diagnosis of Cystic Fibrosis in the Newborn Screening Era.
Coffey Michael J et al. The Journal of pediatrics 2016 Nov
Reproductive Health
- Cystic fibrosis: to screen or not to screen? Involving a Citizens' jury in decisions on screening carrier.
Mosconi Paola et al. Health expectations : an international journal of public participation in health care and health policy 2015 Dec 18(6) 1956-67 - Genetic Counseling for Couples Seeking Noninvasive Prenatal Testing in Japan: Experiences of Pregnant Women and their Partners.
Watanabe Motoko et al. Journal of genetic counseling 2016 Nov - Expanded Carrier Screening and Its Implications on Genetic Testing Protocols.
Gates Alyssa et al. Genetic testing and molecular biomarkers 2016 Nov 20(11) 643-644 - Non-invasive pre-natal test could be accurate as early as three weeks into pregnancy
J Harris, PHG Foundation, November 15, 2016 - Experiences of faith group members using new reproductive and genetic technologies: A qualitative interview study.
Scully Jackie Leach et al. Human fertility (Cambridge, England) 2016 Nov 1-8 - Systematic Design and Comparison of Expanded Carrier Screening Panels
KA Beauchamp et al, BioXRIV preprints, November 10, 2016
Pharmacogenomics
- Contribution of Pharmacogenetic Testing to Modeled Medication Change Recommendations in a Long-Term Care Population with Polypharmacy.
Sugarman Elaine A et al. Drugs & aging 2016 Nov
News/Reviews/Commentaries
- CRISPR gene-editing tested in a person for the first time
D Cyranoski, Nature News, November 15, 2016
Events
- Precision Public Health in Action: How to Prevent Heart Disease and Cancer Associated with Inherited Mutations
NCI Webinar, December 14, 2-3 pm,
Public Health Genomics Knowledge Base (v1.2)
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