Genomics & Health Impact Scan Database|Weekly Scan|PHGKB

Genomics & Health Impact Scan Database|Weekly Scan|PHGKB

Publication Date: Apr 20, 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.

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Human Genomics across the Lifespan

• Birth Defects/Child Health
• Cancer
• Chronic Disease
• Ethics/Policy/Law
• Practice
• Cardiovascular Diseases
• Newborn Screening
• Pharmacogenomics
• Reproductive Health
• Tools/Databases

Birth Defects and Child Health

• Improving genetic diagnosis in Mendelian disease with transcriptome sequencing  
   BB Cummings et al, Sci Trans Med, April 19, 2017
• Making Strides Toward Preventing Inhibitors in Bleeding Disorders 
• Development of the US English version of the phenylketonuria - quality of life (PKU-QOL) questionnaire.  
   Jurecki Elaina et al. Health and quality of life outcomes 2017 Mar 15(1) 46
• ApreciseKUre: an approach of Precision Medicine in a Rare Disease.  
   Spiga Ottavia et al. BMC medical informatics and decision making 2017 Apr 17(1) 42
• Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.  
   McGovern Margaret M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Apr
• Gene Therapy for Hemophilia.  
   Nienhuis Arthur W et al. Molecular therapy : the journal of the American Society of Gene Therapy 2017 Apr
• Searching for a diagnosis: a network of doctors tries to solve medical mysteries  
   A Gorman, Stat News, April 20, 2017

Cancer

• When to Tell Daughters About a Genetic Breast Cancer Risk  
   JW Harris, NY Times, April 20, 2017
• Current and Future Role of Genetic Screening in Gynecologic Malignancies.  
   Ring Kari L et al. American journal of obstetrics and gynecology 2017 Apr
• Characteristics of BRCA1/2 mutations carriers including large genomic rearrangements in high risk breast cancer patients.  
   Park Boyoung et al. Breast cancer research and treatment 2017 May 163(1) 139-150
• Clinical Practice Guidelines for the Surgical Treatment of Patients With Lynch Syndrome.  
   Herzig Daniel O et al. Diseases of the colon and rectum 2017 Feb 60(2) 137-143
• Importance of updating family cancer history in childhood cancer survivors.  
   Russo Selena et al. Familial cancer 2017 Apr
• Universal screening for microsatellite instability in colorectal cancer in the clinical genomics era: new recommendations, methods, and considerations.  
   Hechtman Jaclyn F et al. Familial cancer 2017 Apr
• The 21-Gene Recurrence Score Assay for Node-Positive, Early-Stage Breast Cancer and Impact of RxPONDER Trial on Chemotherapy Decision-Making: Have Clinicians Already Decided?  
   Jasem Jagar et al. Journal of the National Comprehensive Cancer Network : JNCCN 2017 Apr 15(4) 494-503
• Multigene Panel Testing and Breast Cancer Risk: Is It Time to Scale Down?  
   Obeid Elias I et al. JAMA oncology 2017 Apr
• Gaps in Incorporating Germline Genetic Testing Into Treatment Decision-Making for Early-Stage Breast Cancer.  
   Kurian Allison W et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2017 Apr JCO2016716480
• Barriers preventing the adoption of comprehensive cancer genomic profiling in the clinic.  
   Statz Cara M et al. Expert review of molecular diagnostics 2017 Apr
• Ethical considerations surrounding germline next generation sequencing of children with cancer.  
   Johnson Liza-Marie et al. Expert review of molecular diagnostics 2017 Apr
• Getting the first degree relatives to screen for colorectal cancer is harder than it seems-patients' and their first degree relatives' perspectives.  
   Tan Ker-Kan et al. International journal of colorectal disease 2017 Apr
• The value of algorithms predicting the Oncotype DX recurrence score should not be underestimated!  
   Turner Bradley et al. Breast cancer research and treatment 2017 Apr
• Using the 21-gene assay from core needle biopsies to choose neoadjuvant therapy for breast cancer: A multicenter trial.  
   Bear Harry D et al. Journal of surgical oncology 2017 Apr
• Genetic Testing in Patients With Newly Diagnosed Breast Cancer: Room for Improvement.  
   Ahn Soojin et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2017 Apr JCO2017728816
• A Cost-Effectiveness Evaluation of Germline BRCA1 and BRCA2 Testing in UK Women with Ovarian Cancer.  
   Eccleston Anthony et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2017 Apr 20(4) 567-576
• A Multigene Test Could Cost-Effectively Help Extend Life Expectancy for Women at Risk of Hereditary Breast Cancer.  
   Li Yonghong et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2017 Apr 20(4) 547-555
• Adjuvant treatment recommendations for patients with ER-positive/HER2-negative early breast cancer by Swiss tumor boards using the 21-gene recurrence score (SAKK 26/10).  
   Pestalozzi Bernhard C et al. BMC cancer 2017 Apr 17(1) 265
• Complementary utility of targeted next-generation sequencing and immunohistochemistry panels as a screening platform to select targeted therapy for advanced gastric cancer.  
   Kim Hyo Song et al. Oncotarget 2017 Mar
• Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer.  
   Couch Fergus J et al. JAMA oncology 2017 Apr
• Microsatellite analysis of sporadic and hereditary gynaecological cancer in routine diagnostics.  
   Libera Laura et al. Journal of clinical pathology 2017 Apr
• A feasibility study of returning clinically actionable somatic genomic alterations identified in a research laboratory.  
   Arango Natalia Paez et al. Oncotarget 2017 Mar
• Diagnostic and prognostic value of blood samples for KRAS mutation identification in lung cancer: a meta-analysis.  
   Shen Hongchang et al. Oncotarget 2017 Mar
• Reversion of BRCA1/2 Germline Mutations Detected in Circulating Tumor DNA From Patients With High-Grade Serous Ovarian Cancer.  
   Christie Elizabeth L et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2017 Apr 35(12) 1274-1280
• Online self-test identifies women at high familial breast cancer risk in population-based breast cancer screening without inducing anxiety or distress. 
   van Erkelens A et al. European journal of cancer (Oxford, England : 1990) 2017 Apr 7845-52
• Breast cancer screening of pregnant and breastfeeding women with BRCA mutations.  
   Carmichael Harris et al. Breast cancer research and treatment 2017 Apr 162(2) 225-230
• An exploration of Australian psychologists' role in assessing women considering risk-reducing or contralateral prophylactic mastectomy.  
   Braude Lucy et al. Breast (Edinburgh, Scotland) 2017 Apr 32105-111
• Oncotype Dx recurrence score among BRCA1/2 germline mutation carriers with hormone receptors positive breast cancer.  
   Halpern Naama et al. International journal of cancer 2017 May 140(9) 2145-2149
• Deficit of Risk-Reducing Salpingo-Oophorectomies in BRCA1/2 Mutation Carriers After Telephone Genetic Counseling.  
   Benusiglio Patrick R et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2017 Apr 35(11) 1255
• Impact of Oncotype DX breast Recurrence Score testing on adjuvant chemotherapy use in early breast cancer: Real world experience in Greater Manchester, UK.  
   Loncaster J et al. European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology 2017 May 43(5) 931-937
• Dueling BRCA Databases: What About the Patient?  
   R Lewis, PLOS Blogs, April 20, 2017
• Patient and medical barriers preclude uptake of tamoxifen preventative therapy in women with a strong family history.  
   Skandarajah Anita R et al. Breast (Edinburgh, Scotland) 2017 Apr 3293-97
• Using Breast Cancer Risk Associated Polymorphisms to Identify Women for Breast Cancer Chemoprevention.  
   Ziv Elad et al. PloS one 2017 12(1) e0168601
• Apply Resources to Practice: Use Current Genetics and Genomics Content in Oncology.  
   Mahon Suzanne M et al. Clinical journal of oncology nursing 2017 Feb 21(1) 34-38
• The CRISP colorectal cancer risk prediction tool: an exploratory study using simulated consultations in Australian primary care.  
   Walker Jennifer G et al. BMC medical informatics and decision making 2017 Jan 17(1) 13

Chronic Diseases

• A systematic review of genetic syndromes with obesity.  
   Kaur Y et al. Obesity reviews : an official journal of the International Association for the Study of Obesity 2017 Mar
• Genetics of obesity: can an old dog teach us new tricks?  
   Yeo Giles S H et al. Diabetologia 2017 May 60(5) 778-783
• Clinical Trials and Studies Using the National Amyotrophic Lateral Sclerosis Registry 
• Genetic risk variants as therapeutic targets for Crohn's disease.  
   Gabbani Tommaso et al. Expert opinion on therapeutic targets 2017 Apr 21(4) 381-390
• Genetics of fat intake in the determination of body mass.  
   Chmurzynska Agata et al. Nutrition research reviews 2017 Mar 1-12

Ethics, Policy and Law

• The elusive ideal of inclusiveness: lessons from a worldwide survey of neurologists on the ethical issues raised by whole-genome sequencing.  
   Hurlimann Thierry et al. BMC medical ethics 2017 Apr 18(1) 28
• Recontacting in clinical genetics and genomic medicine? We need to talk about it.  
   Carrieri Daniele et al. European journal of human genetics : EJHG 2017 May 25(5) 520-521

Genomics in Practice

• When I use a word . . . Translational research—a further model  
   J Aronson, BMJ Opinion, April 2017
• F.D.A. Will Allow 23andMe to Sell Genetic Tests for Disease Risk to Consumers  
   G Kolata, New York Times, April 2017
• What the new, FDA-approved 23andMe genetic health risk reports can, and can't, tell you,  
   by Samantha Masunaga, the La Times, April 14, 2017
• Direct to Consumer Genetic Testing: Think Before You Spit, 2017 Edition!
   MJ Khoury, CDC Blog Post, April 18, 2017
• You Look Good in Those Genes- Genetic tests can spell out your risk of getting certain diseases. But could that info do more harm than good?  
   Research 2 Reality, April 13, 2017
• Genetic Counselors and You Webinar Series: Direct-to-Consumer Genetic Tests  
   My genecounsel, April 17, 2017
• A vision of the future for personalised healthcare  
   P Brice, PHG Foundation, April 18, 2017
• Scientists unveil CRISPR-based diagnostic platform  
   Broad Institute, April 13, 2017
• How do clinical genetics consent forms address the familial approach to confidentiality and incidental findings? A mixed-methods study.  
   Dheensa Sandi et al. Familial cancer 2017 Apr
• Critical Issues in the Inclusion of Genetic and Epigenetic Information in Prevention and Intervention Trials.  
   Latendresse Shawn J et al. Prevention science : the official journal of the Society for Prevention Research 2017 Apr
• Clinical Variant Classification: A Comparison of Public Databases and a Commercial Testing Laboratory.  
   Gradishar William et al. The oncologist 2017 Apr
• Letter to the editor: Are the doors opened to a genetic-based algorithm for personalized resistance training?  
   Monnerat-Cahli G et al. Biology of sport 2017 Mar 34(1) 27-29
• Sharing Data to Build a Medical Information Commons: From Bermuda to the Global Alliance.  
   Cook-Deegan Robert et al. Annual review of genomics and human genetics 2017 Apr
• Primer in Genetics and Genomics, Article 3-Explaining Human Diversity: The Role of DNA.  
   Read Catherine Y et al. Biological research for nursing 2017 May 19(3) 350-356

Cardiovascular Diseases

• Genetic Architecture of Familial Hypercholesterolaemia.  
   Sharifi Mahtab et al. Current cardiology reports 2017 May 19(5) 44
• Interpreting Incidentally Identified Variants in Genes Associated With Catecholaminergic Polymorphic Ventricular Tachycardia in a Large Cohort of Clinical Whole-Exome Genetic Test Referrals.  
   Landstrom Andrew P et al. Circulation. Arrhythmia and electrophysiology 2017 Apr 10(4)
• International Developments in the Care of Familial Hypercholesterolemia: Where Now and Where to Next?  
   Pang Jing et al. Journal of atherosclerosis and thrombosis 2016 May 23(5) 505-19
• Genetic testing for familial hypercholesterolaemia is essential in individuals with high LDL cholesterol: who does it in the world?  
   Nordestgaard Børge G et al. European heart journal 2017 Apr
• Evolocumab for Treating Primary Hypercholesterolaemia and Mixed Dyslipidaemia: An Evidence Review Group Perspective of a NICE Single Technology Appraisal.  
   Carroll Christopher et al. PharmacoEconomics 2017 May 35(5) 537-547
• Delivering Clinical Grade Sequencing and Genetic Test Interpretation for Cardiovascular Medicine.  
   Harper Andrew R et al. Circulation. Cardiovascular genetics 2017 Apr 10(2)
• Application of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults.  
   Seidelmann Sara B et al. Circulation. Cardiovascular genetics 2017 Feb 10(1)

Newborn Screening

• Eliciting Preferences for Information Provision in Newborn Bloodspot Screening Programs.  
   Wright Stuart J et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2017 Apr 20(4) 651-661
• Three-year follow-up of children with abnormal newborn screening results for congenital hypothyroidism.  
   Kang Min-Jae et al. Pediatrics and neonatology 2017 Mar

Reproductive Health

• Non-invasive prenatal screening versus prenatal diagnosis by array comparative genomic hybridization: a comparative retrospective study.  
   Sotiriadis Alexandros et al. Prenatal diagnosis 2017 Apr
• The Influence of Noninvasive Prenatal Testing on Gestational Age at Time of Abortion for Aneuploidy.  
   Lassey Sarah C et al. Prenatal diagnosis 2017 Apr
• The influence of SNP-based chromosomal microarray and NIPT on the diagnostic yield in 10,000 fetuses with and without fetal ultrasound anomalies. 
   Srebniak Malgorzata I et al. Human mutation 2017 Apr
• Experience of carrier couples identified through a population-based carrier screening pilot program for four founder autosomal recessive diseases in Saguenay-Lac-Saint-Jean.  
   Tardif Jessica et al. Prenatal diagnosis 2017 Apr
• What do people want to know about NIPT? Content analysis of questions emailed to national NIPT information websites.  
   Tamminga Saskia et al. Prenatal diagnosis 2017 Apr 37(4) 412-415
• Attitudes towards non-invasive prenatal diagnosis among obstetricians in Pakistan, a developing, Islamic country.  
   Ahmed Shenaz et al. Prenatal diagnosis 2017 Mar 37(3) 289-295

Pharmacogenomics

• Pharmacogenetics of aromatase inhibitors in endocrine responsive breast cancer: lessons learnt from tamoxifen and CYP2D6 genotyping.  
   Baatjes Karin Jeanne et al. Anti-cancer agents in medicinal chemistry 2017 Apr
• Knowledge and attitude regarding pharmacogenetics among formerly pregnant women in the Netherlands and their interest in pharmacogenetic research.  
   Daud Aizati N A et al. BMC pregnancy and childbirth 2017 Apr 17(1) 120

Tools and Databases

• Using Next-Generation Sequencing to Explore Genetics and Race in the High School Classroom.  
   Yang Xinmiao et al. CBE life sciences education 2017 16(2)

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.

Genomics & Health Impact Scan Database|Weekly Scan|PHGKB