Genomics & Health Impact Scan Database|Weekly Scan|PHGKB

Genomics & Health Impact Scan Database|Weekly Scan|PHGKB

Publication Date: Jun 22, 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
• Practice
• Cardiovascular Diseases
• Newborn Screening
• Pharmacogenomics
• Reproductive Health
• News/ Reviews/Comments

Birth Defects and Child Health

• Sickle Cell in the Emergency Department 
• Sickle cell disease and implementation science: A partnership to accelerate advances.  
   King Allison A et al. Pediatric blood & cancer 2017 May
• The Promise and Opportunities for Screening and Treating Childhood Obesity USPSTF Recommendation Statement  
   T Quattrin et al, JAMA Pediatrics, June 20, 2017
• With a rapper's death, harsh spotlight falls on slow progress against sickle cell  
   S Begley, StatNews, June 21, 2017
• Machine learning can detect a genetic disorder from speech recordings  
   University of Wisconsin at Madison, June, 2017

Cancer

• Clinical use of the Oncotype DX genomic test to guide treatment decisions for patients with invasive breast cancer.  
   McVeigh Terri P et al. Breast cancer (Dove Medical Press) 2017 9393-400
• Predictability of BRCA1/2 mutation status in patients with ovarian cancer: How to select women for genetic testing in middle-income countries.  
   Teixeira Natalia et al. Maturitas 2017 Jun
• Acceptance of adjuvant chemotherapy recommendations in early-stage hormone-positive breast cancer.  
   Marcinkowski Emily F et al. The Journal of surgical research 2017 Jun 21479-85
• A universal genetic testing initiative for patients with high-grade, non-mucinous epithelial ovarian cancer and the implications for cancer treatment. 
   Bednar Erica M et al. Gynecologic oncology 2017 Jun
• Use of the BOADICEA Web Application in clinical practice: appraisals by clinicians from various countries.  
   Brédart Anne et al. Familial cancer 2017 Jun
• Pattern recognition for predictive, preventive, and personalized medicine in cancer.  
   Cheng Tingting et al. The EPMA journal 2017 Mar 8(1) 51-60
• Precision Oncology: Gene Changes Predict Immunotherapy Response  
   NIH Director Blog, June 20, 2017
• Preferences for breast cancer risk reduction among BRCA1/BRCA2 mutation carriers: a discrete-choice experiment.  
   Liede Alexander et al. Breast cancer research and treatment 2017 Jun
• Von Hippel-Lindau and Hereditary Pheochromocytoma/Paraganglioma Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood.  
   Rednam Surya P et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Jun 23(12) e68-e75
• PTEN, DICER1, FH, and Their Associated Tumor Susceptibility Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood.  
   Schultz Kris Ann P et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Jun 23(12) e76-e82
• Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk.  
   Villani Anita et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Jun 23(12) e83-e90
• Impact of a 31-gene Expression Profiling Test for Cutaneous Melanoma on Dermatologists' Clinical Management Decisions.  
   Farberg Aaron S et al. Journal of drugs in dermatology : JDD 2017 May 16(5) 428-431
• Predictors of BRCA1/2 genetic testing among Black women with breast cancer: a population-based study.  
   Jones Tarsha et al. Cancer medicine 2017 Jun
• Does personalised melanoma genomic risk information trigger conversations about skin cancer prevention and skin examination with family, friends and health professionals?  
   Smit A K et al. The British journal of dermatology 2017 Jun
• Genetic counseling for hereditary cancer: A primer for NPs.  
  et al. The Nurse practitioner 2017 Jul 42(7) 28-29
• Where cigarette smoking's damage is done... down to your DNA  
   Science Magazine, June 12, 2017
• Do online prognostication tools represent a valid alternative to genomic profiling in the context of adjuvant treatment of early breast cancer? A systematic review of the literature.  
   El Hage Chehade Hiba et al. American journal of surgery 2017 Jun
• Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers.  
   Kuchenbaecker Karoline B et al. JAMA 2017 Jun 317(23) 2402-2416
• Do What I Couldn't...and Go Save Your Life  
   Amy B Shainman, June, 2017
• Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA)  
   The Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) is a computer program that is used to calculate the risks of breast and ovarian cancer in women based on their family history.
• PARP Inhibitor for Metastatic Breast Cancer  
   NEJM Journal Watch, June 14, 20
• FDA Approves Pembrolizumab for Tumors with Specific Genetic Features  
   NCI, June 20, 2017

Chronic Disease

• The Efficacy of Genetic Counseling for Psychiatric Disorders: a Meta-Analysis.  
   Moldovan Ramona et al. Journal of genetic counseling 2017 Jun
• Gut microbiome and serum metabolome alterations in obesity and after weight-loss intervention.  
   Liu Ruixin et al. Nature medicine 2017 Jun
• Is the atopic march related to confounding by genetics and early life environment? A systematic review of sibship and twin data.  
   Khan Sabria J et al. Allergy 2017 Jun
• ATTITUDES TOWARD GENETIC COUNSELING AND TESTING IN PATIENTS WITH INHERITED ENDOCRINOPATHIES.  
   Gallagher Thomas M et al. Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2017 Jun
• Scientists Discover a Key to a Longer Life in Male DNA  
   C Zimmer, New York Times, June 16, 2017
• An online tool to help you decide whether or not to get tested to learn your genetic risk for late-onset Alzheimer's disease.  
• Genes and the environment? Factors, patterns that lead to childhood obesity risk  
   Science Mag, June 16, 2017
• A Couple's Quest To Stop A Rare Disease Before It Takes One Of Them  
   NPR, All Things Considered, June 19, 2019
• Centenarians as extreme phenotypes: An ecological perspective to get insight into the relationship between the genetics of longevity and age-associated diseases.  
   Giuliani Cristina et al. Mechanisms of ageing and development 2017 Feb
• ASH Announces Upcoming Sickle Cell Disease Guidelines,  
   by Mathew Shanley, Rare DR, June 19, 2017

Practice

• MyGeneFriends: A Social Network Linking Genes, Genetic Diseases, and Researchers.  
   Allot Alexis et al. Journal of medical Internet research 2017 Jun 19(6) e212
• "If It Helps, It's Worth a Try": an Investigation of Perceptions and Attitudes about Genetic Counseling among Southern Manitoba Hutterites.  
   Gemmell Amber P et al. Journal of genetic counseling 2017 Jun
• In Retrospect: A decade of shared genomic associations.  
   Manolio Teri A et al. Nature 2017 Jun 546(7658) 360-361
• Medical genetics and genomics education: how do we define success? Where do we focus our resources?  
   Bennett Robin L et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jun
• The Hope and Hype of CRISPR-Cas9 Genome Editing: A Review.  
   Musunuru Kiran et al. JAMA cardiology 2017 Jun
• With precision medicine, social determinants could be more insightful than genetics  
   T Sullivan, Healthcare IT News, June 2017

Cardiovascular Diseasesr

• The Effect of Genetic Polymorphisms in SLCO2B1 on the Lipid-lowering Efficacy of Rosuvastatin in Healthy Adults with Elevated Low-density Lipoprotein.  
   Kim Tae-Eun et al. Basic & clinical pharmacology & toxicology 2017 Jun

Newborn Screening

• Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn.  
   Pavey Ashleigh R et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jun

Pharmacogenomics

• Genome-wide cfDNA screening: clinical laboratory experience with the first 10,000 cases.  
   Ehrich Mathias et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jun
• Enhanced First Trimester Screening for Trisomy 21 with Contingent Cell-Free Fetal DNA: A Comparative Performance and Cost Analysis.  
   Huang Tianhua et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2017 Jun
• Invasive Prenatal Diagnostic Testing Recommendations are Influenced by Maternal Age, Statistical Misconception and Perceived Liability.  
   Miron-Shatz Talya et al. Journal of genetic counseling 2017 Jun
• Implementation of multidisciplinary care reduces maternal mortality in women with sickle cell disease living in low-resource setting.  
   Asare Eugenia Vicky et al. American journal of hematology 2017 May
• Babies? DNA affects mothers? risk of pre-eclampsia in pregnancy, study finds  
   Science Mag, June 19, 2017
• Sickle Cell Disease.  
   Piel Frédéric B et al. The New England journal of medicine 2017 376(16) 1561-1573

Reproductive Health

• The COMT Val(108/158)Met Genetic Polymorphism can not be Recommended as a Biomarker of Prediction of Venlafaxine Efficacy in Patients treated in Psychiatric settings.  
   Taranu Adela et al. Basic & clinical pharmacology & toxicology 2017 Jun
• Clinical Implementation of Pharmacogenomics for Personalized Precision Medicine: Barriers and Solutions.  
   Klein Michelle Elizabeth et al. Journal of pharmaceutical sciences 2017 Jun

News/ Reviews/Comments

• The Upside of Bad Genes,  
   by Moises Velasquez-Manoff, The New York Times, June 17, 2017
• This Study Is Forcing Scientists To Rethink The Human Genome,  
  by Kristen V. Brown, Gizmodo, June 17, 2017
• New concerns raised over value of genome-wide disease studies,  
   by Ewen Callaway, Nature, June 15, 2017

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.