Publication Date: Apr 13, 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.
Human Genomics across the Lifespan
Birth Defects and Child Health
- A step closer to personalized medicine for intellectual disability: 26 novel genes identified
Newswire Ca, April 12, 2017 - Attitudes and beliefs among high- and low-risk population groups towards β-thalassemia prevention: a cross-sectional descriptive study from India.
Chawla Swati et al. Journal of community genetics 2017 Apr - Development and clinical utility of a novel diagnostic nystagmus gene panel using targeted next-generation sequencing.
Thomas Mervyn G et al. European journal of human genetics : EJHG 2017 Apr - Effect of Consanguinity on Low Birth Weight: A Meta-Analysis.
Poorolajal Jalal et al. Archives of Iranian medicine 2017 Mar 20(3) 178-184
Cancer
- Cost-effectiveness of different strategies to prevent breast and ovarian cancer in German women with a BRCA 1 or 2 mutation.
Müller Dirk et al. The European journal of health economics : HEPAC : health economics in prevention and care 2017 Apr - "When information is not enough": A model for understanding BRCA-positive previvors' information needs regarding hereditary breast and ovarian cancer risk.
Dean Marleah et al. Patient education and counseling 2017 Mar - Multimodal lung cancer screening using the ITALUNG Biomarker Panel and Low Dose Computed Tomography. Results of the ITALUNG biomarker study.
Carozzi Francesca Maria et al. International journal of cancer 2017 Apr - Haematological cancers: improving outcomes. A summary of updated NICE service guidance in relation to Specialist Integrated Haematological Malignancy Diagnostic Services (SIHMDS).
Snowden John A et al. Journal of clinical pathology 2017 Apr - Next Generation Sequencing and Multi-Gene Panel Testing: Implications for the Oncology Nurse.
Kelly Patricia A et al. Seminars in oncology nursing 2017 Apr - Screening and Early Detection of Lung Cancer.
Eggert Julie et al. Seminars in oncology nursing 2017 Apr - High demoralization in a minority of oophorectomized BRCA1/2 mutation carriers influences quality of life.
Arts-de Jong Marieke et al. Journal of psychosomatic obstetrics and gynaecology 2017 Mar 1-9 - Impact of a multivariate serum-based proteomic test on physician treatment recommendations for advanced non-small-cell lung cancer.
Akerley Wallace L et al. Current medical research and opinion 2017 Mar 1-7 - Molecular Testing Turnaround Time for Non-Small Cell Lung Cancer in Routine Clinical Practice Confirms Feasibility of CAP/IASLC/AMP Guideline Recommendations: A Single-center Analysis.
DiStasio Marcello et al. Clinical lung cancer 2017 Mar - Can A Simple Blood Test Really Spot Cancer Early? Don’t Bet On It Yet, Scientists Say.
SM Lee, Buzzfeed, April 13, 2017 - Decision making tools in prostate cancer: from risk grouping to nomograms.
Fontanella Paolo et al. Minerva urologica e nefrologica = The Italian journal of urology and nephrology 2017 Mar - ALDH2 polymorphism and alcohol-related cancers in Asians: a public health perspective.
Chang Jeffrey S et al. Journal of biomedical science 2017 Mar 24(1) 19 - Traceback: A Proposed Framework to Increase Identification and Genetic Counseling of BRCA1 and BRCA2 Mutation Carriers Through Family-Based Outreach.
Samimi Goli et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2017 Apr JCO2016703439 - Prognostic impact of FOXF1 polymorphisms in gastric cancer patients.
Matsusaka S et al. The pharmacogenomics journal 2017 Apr - Patient understanding of genetic information influences reproductive decision making in retinoblastoma.
Foster A et al. Clinical genetics 2017 Apr - Oncotype DX breast cancer recurrence score can be predicted with a novel nomogram using clinicopathologic data.
Orucevic Amila et al. Breast cancer research and treatment 2017 May 163(1) 51-61 - Somatic Mutations in Prostate Cancer: Closer to Personalized Medicine.
Alvarez-Cubero M J et al. Molecular diagnosis & therapy 2017 Apr 21(2) 167-178 - Relative contribution of genetic, individual, and self-efficacy factors to smoking cessation in a Chinese rural population.
Wang Qiang et al. The American journal on addictions 2017 Mar 26(2) 161-166 - The US Preventive Services Task Force 2017 Draft Recommendation Statement on Screening for Prostate Cancer: An Invitation to Review and Comment.
Bibbins-Domingo Kirsten et al. JAMA 2017 Apr
Chronic Diseases
- What do genetic studies tell us about the heritable basis of common epilepsy? Polygenic or complex epilepsy?
Koeleman Bobby P C et al. Neuroscience letters 2017 Mar - Translation of Nutritional Genomics into Nutrition Practice: The Next Step.
Murgia Chiara et al. Nutrients 2017 Apr 9(4)
Ethics, Policy and Law
- A Public Health Approach to Achieving Health Equity
H Dean ASTHO BLog, April 2017
Genomics in Practice
- FDA allows marketing of first direct-to-consumer tests that provide genetic risk information for certain conditions
FDA Press Release, April 6, 2017 - CRISPR studies muddy results of older gene research
H Ledford, Nature News, April 2017 - Trailblazer genetic counselors: public health
My Gene Council, April 10, 2017 - The case for the genetic nurse in South Africa.
Malherbe Helen L et al. Journal of community genetics 2017 Apr 8(2) 65-73 - Engaging a state: Facebook comments on a large population biobank.
Platt Tevah et al. Journal of community genetics 2017 Apr - De-identified genomic data sharing: the research participant perspective.
Goodman Deborah et al. Journal of community genetics 2017 Apr - Choices for return of primary and secondary genomic research results of 790 members of families with Mendelian disease.
Fiallos Katie et al. European journal of human genetics : EJHG 2017 Mar - Genetics of consanguinity and inbreeding in health and disease.
Fareed Mohd et al. Annals of human biology 2017 Mar 44(2) 99-107 - Large Gene Panel Sequencing in Clinical Diagnostics - Results from 501 Consecutive Cases.
Pajusalu Sander et al. Clinical genetics 2017 Apr - Expect the unexpected: screening for secondary findings in clinical genomics research.
Mackley Michael P et al. British medical bulletin 2017 Apr 1-14 - 3Lessons from the CAGI-4 Hopkins clinical panel challenge.
Chandonia John-Marc et al. Human mutation 2017 Apr - Public Attitudes toward Consent and Data Sharing in Biobank Research: A Large Multi-site Experimental Survey in the US.
Sanderson Saskia C et al. American journal of human genetics 2017 Mar 100(3) 414-427 - Before you send your spit to 23andMe, what you need to know
S Begley, Stat News, April 7, 2017 - FDA approves sale of genetic tests for risk of Alzheimer’s and other diseases
M. Keshavan, StatNews, April 6, 2017
Cardiovascular Diseases
- Familial hypercholesterolemia in the Czech Republic: more than 17 years of systematic screening within the MedPed project.
Vrablík M et al. Physiological research 2017 Apr 66(Supplementum 1) S1-S9 - Genetics of first-cousin marriage families show how some are protected from heart disease
Medical Xpress, April 12, 2017 - Cost effectiveness of cascade testing for familial hypercholesterolaemia, based on data from familial hypercholesterolaemia services in the UK.
Kerr Marion et al. European heart journal 2017 Apr - Cost-effectiveness of a cascade screening program for the early detection of familial hypercholesterolemia.
Lázaro Pablo et al. Journal of clinical lipidology 11(1) 260-271 - Minding the Genes: a Multidisciplinary Approach towards Genetic Assessment of Cardiovascular Disease.
Rhodes Ashley et al. Journal of genetic counseling 2017 Apr 26(2) 224-231 - Postmortem genetic testing should be recommended in sudden cardiac death cases due to thoracic aortic dissection.
Gago-Díaz Marina et al. International journal of legal medicine 2017 Apr
Newborn Screening
- Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening.
Wolf Barry et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Apr 19(4) 396-402 - Policy Making in Newborn Screening Needs a Structured and Transparent Approach.
Jansen Marleen E et al. Frontiers in public health 2017 553
Reproductive Health
- Missed Opportunities: Unidentified genetic risk factors in prenatal care.
McClatchey Trissa et al. Prenatal diagnosis 2017 Apr - The rate of invasive testing for trisomy 21 is reduced after implementation of NIPT.
Bjerregaard Louise et al. Danish medical journal 2017 Apr 64(4) - Offering Prenatal Screening in the Age of Genomic Medicine: A Practical Guide.
Allyse Megan et al. Journal of women's health (2002) 2017 Apr - Reciprocal Relationships: the Genetic Counselor-Patient Relationship Following a Life-Limiting Prenatal Diagnosis.
Williams S R et al. Journal of genetic counseling 2017 Apr 26(2) 337-354 - Preimplantation genetic diagnosis and screening by array comparative genomic hybridisation: experience of more than 100 cases in a single centre.
Chow J Fc et al. Hong Kong medical journal = Xianggang yi xue za zhi 2017 Apr 23(2) 129-33 - Declining invasive prenatal diagnostic procedures: A comparison of tertiary hospital and national data from 2012 to 2015.
Johnson Kristine et al. The Australian & New Zealand journal of obstetrics & gynaecology 2017 Mar - Chorionic villus sampling in the cell-free DNA aneuploidy screening era: careful selection criteria can maximise the clinical utility of screening and invasive testing.
Kane Stefan C et al. Prenatal diagnosis 2017 Feb
Pharmacogenomics
- Intuitive pharmacogenetic dosing of risperidone according to CYP2D6 phenotype extrapolated from genotype in a cohort of first episode psychosis patients.
Mas Sergi et al. European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology 2017 Apr - Electronic medical record-integrated pharmacogenomics and related clinical decision support concepts.
Caraballo Pedro J et al. Clinical pharmacology and therapeutics 2017 Apr - Multidisciplinary model to implement pharmacogenomics at the point of care.
Caraballo Pedro J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Apr 19(4) 421-429 - Study finds genetic basis for drug response in childhood absence epilepsy
NIH Press Release, April 11, 2017 - Pharmacogenomics-Based Point-of-Care Clinical Decision Support Significantly Alters Drug Prescribing.
O'Donnell Peter H et al. Clinical pharmacology and therapeutics 2017 Apr
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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