Genomics & Health Impact Scan Database|Weekly Scan|PHGKB

Genomics & Health Impact Scan Database|Weekly Scan|PHGKB

Publication Date: Mar 23, 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
• News/ Reviews/Comments

Birth Defects and Child Health

• Gene Therapy May Finally Be Coming of Age  
   KQED Science, March 20, 2017

Cancer

• New era in precision medicine for pancreatic cancer  
   Science, March 23, 2017
• Care delivery considerations for widespread and equitable implementation of inherited cancer predisposition testing.  
   Cragun Deborah et al. Expert review of molecular diagnostics 2017 Jan 17(1) 57-70
• iCAGES: integrated CAncer GEnome Score for comprehensively prioritizing driver genes in personal cancer genomes.  
   Dong Chengliang et al. Genome medicine 2016 8(1) 135
• Genomic landscape of colorectal cancer in Japan: clinical implications of comprehensive genomic sequencing for precision medicine.  
   Nagahashi Masayuki et al. Genome medicine 2016 8(1) 136
• Information Mismatch: Cancer Risk Counseling with Diverse Underserved Patients.  
   Joseph Galen et al. Journal of genetic counseling 2017 Mar
• Nashotah man behind Lynch Syndrome Awareness Day  
   A Budde, Lake Country Now, March 2017
• Lynch Syndrome on Health Report with Norman Swan on RN, Radio abc, March 20, 2017  
• Should Genetic Testing be Offered for Children? The Perspectives of Adolescents and Emerging Adults in Families with Li-Fraumeni Syndrome.  
   Alderfer Melissa A et al. Journal of genetic counseling 2017 Mar
• Risk of breast cancer after a diagnosis of ovarian cancer in BRCA mutation carriers: Is preventive mastectomy warranted?  
   McGee Jacob et al. Gynecologic oncology 2017 Mar
• Standards of Practice: Applying Genetics and Genomics Resources to Oncology
.  
   Kerber Alice S et al. Clinical journal of oncology nursing 2017 Apr 21(2) 169-173
• Genetic anticipation in BRCA1/BRCA2 families after controlling for ascertainment bias and cohort effect.  
   Guindalini Rodrigo Santa Cruz et al. Cancer 2016 122(12) 1913-20
• Supporting disclosure of genetic information to family members: professional practice and timelines in cancer genetics.  
   Derbez Benjamin et al. Familial cancer 2017 Mar
• The effect of a celebrity health disclosure on demand for health care: trends in BRCA testing and subsequent health services use.  
   Roberts Megan C et al. Journal of community genetics 2017 Mar
• Breast cancer and genomic testing.  
   Liedtke C et al. The British journal of surgery 2017 Mar
• The cancer epigenome: Concepts, challenges, and therapeutic opportunities.  
   Dawson Mark A et al. Science (New York, N.Y.) 2017 Mar 355(6330) 1147-1152

Chronic Diseases

• Positioning the Principles of Precision Medicine in Care Pathways for Allergic Rhinitis and Chronic Rhinosinusitis - an EUFOREA-ARIA-EPOS-AIRWAYS ICP statement.  
   Hellings P W et al. Allergy 2017 Mar
• Clinical Impact of Pharmacogenetic-Guided Treatment for Patients Exhibiting Neuropsychiatric Disorders: A Randomized Controlled Trial.  
   Olson Marilyn C et al. The primary care companion for CNS disorders 2017 Mar 19(2)
• Genetic assessment of age-associated Alzheimer disease risk: Development and validation of a polygenic hazard score.  
   Desikan Rahul S et al. PLoS medicine 2017 Mar 14(3) e1002258
• Economic Evaluations of Thrombophilia Screening Prior to Prescribing Combined Oral Contraceptives: A Systematic and Critical Review.  
   Vernon Erin et al. Applied health economics and health policy 2017 Mar
• Recent Progress in Alzheimer's Disease Research, Part 2: Genetics and Epidemiology.  
   Robinson Morgan et al. Journal of Alzheimer's disease : JAD 2017 Feb

Ethics, Policy and Law

• Returning genome sequences to research participants: Policy and practice.  
   Wright Caroline F et al. Wellcome open research 2017 Feb 215
• Toward an Ethically Sensitive Implementation of Noninvasive Prenatal Screening in the Global Context.  
   Mozersky Jessica et al. The Hastings Center report 2017 Mar 47(2) 41-49
• Genome editing: Bioethics shows the way.  
   Neuhaus Carolyn P et al. PLoS biology 2017 Mar 15(3) e2001934

Genomics in Practice

• After the epigenome: The epitranscriptome  
   Science Magazine, March 22, 2017
• Precision nutrition: Hype or hope?  
   Harvard School of Public Health, February 2017
• Birth of the genetic counselor: 'Prescient' Melissa Richter  
   Lohud, March 16, 2017
• Are we ready for the revolution in personalized medicine?[PDF 332 KB]  
   NHS Education England
• Adding value to genetic testing through utilization management: Commercial laboratory's experience.  
   Londre Gina K et al. American journal of medical genetics. Part A 2017 Mar
• The role of genetic counsellors in genomic healthcare in the United Kingdom: a statement by the Association of Genetic Nurses and Counsellors.  
   Middleton Anna et al. European journal of human genetics : EJHG 2017 Mar
• How economics can shape precision medicines  
   AD Stern et al, Science, March 17, 2017
• Public Views on Genetics and Genetic Testing: A Survey of the General Public in Belgium.  
   Chokoshvili Davit et al. Genetic testing and molecular biomarkers 2017 Mar 21(3) 195-201
• Principles and Recommendations for Standardizing the Use of the Next-Generation Sequencing Variant File in Clinical Settings.  
   Lubin Ira M et al. The Journal of molecular diagnostics : JMD 2017 Mar
• Implementing genetic education in primary care: the Gen-Equip programme.  
   Paneque Milena et al. Journal of community genetics 2017 Mar
• Can Communicating Personalised Disease Risk Promote Healthy Behaviour Change? A Systematic Review of Systematic Reviews.  
   French David P et al. Annals of behavioral medicine : a publication of the Society of Behavioral Medicine 2017 Mar
• Personal utility in genomic testing: a systematic literature review.  
   Kohler Jennefer N et al. European journal of human genetics : EJHG 2017 Mar
• Exploring the feasibility of delivering standardized genomic care using ophthalmology as an example.  
   Davison Niall et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Mar
• H3Africa: Fostering Collaboration  
   F Collins, NIH Director, March 23, 2017

Cardiovascular Diseases

• Exome sequencing based molecular autopsy of formalin-fixed paraffin-embedded tissue after sudden death  
   RD Bagnall et al, Genetics in Medicine, March 23, 2017
• Novel Drug Delivers Long Term Cholesterol Reduction  
   L Husten, Cardio Brief, March 18, 2017
• PCSK9 Inhibition to Reduce Cardiovascular Events.  
   Dullaart Robin P F et al. The New England journal of medicine 2017 Mar
• Effect of Moderate-Intensity Exercise Training on Peak Oxygen Consumption in Patients With Hypertrophic Cardiomyopathy: A Randomized Clinical Trial.  
   Saberi Sara et al. JAMA 2017 Mar
• Genome-based cholesterol drug boosts heart health Treatment reduces the risk of heart attack and stroke, but might not live up to outsized expectations.  
   H Ledford, Nature News, March 18 2017
• Recreational Exercise in Hypertrophic Cardiomyopathy.  
   Owens Anjali T et al. JAMA 2017 Mar

Newborn Screening

• Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes.  
   Tsai Fang-Chih et al. Journal of the Chinese Medical Association : JCMA 2017 Mar
• Newborn screening for six lysosomal storage disorders in a cohort of Mexican patients: Three-year findings from a screening program in a closed Mexican health system.  
   Navarrete-Martínez Juana Inés et al. Molecular genetics and metabolism 2017 Mar

Reproductive Health

• Growing complexity of (expanded) carrier screening: Direct-to-consumer, physician-mediated, and clinic-based offers.  
   Chokoshvili Davit et al. Best practice & research. Clinical obstetrics & gynaecology 2017 Feb
• Reasons for Declining Preconception Expanded Carrier Screening Using Genome Sequencing.  
   Gilmore Marian J et al. Journal of genetic counseling 2017 Mar

Pharmacogenomics

• Clinicians' perceptions of pharmacogenomics use in psychiatry.  
   Chan Christopher Yi Wen et al. Pharmacogenomics 2017 Mar
• Genetic signatures of heroin addiction.  
   Chen Shaw-Ji et al. Medicine 2016 Aug 95(31) e4473
• The IGNITE Pharmacogenetics Working Group: An Opportunity for Building Evidence with Pharmacogenetic Implementation in a Real-World Setting.  
   Cavallari L H et al. Clinical and translational science 2017 Mar
• Epigenetic alteration a promising new drug target for heroin use disorder  
   Science Magazine, March 14, 2017
• Design, Implementation, and Assessment Approaches Within a Pharmacogenomics Course.  
   Remsberg Connie M et al. American journal of pharmaceutical education 2017 Feb 81(1) 11
• STRATEGIES FOR EQUITABLE PHARMACOGENOMIC-GUIDED WARFARIN DOSING AMONG EUROPEAN AND AFRICAN AMERICAN INDIVIDUALS IN A CLINICAL POPULATION.  
   Wiley Laura K et al. Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing 2016 22545-556
• Pharmacogenomic screening for anthracycline-induced cardiotoxicity in childhood cancer.  
   Aminkeng Folefac et al. British journal of clinical pharmacology 2017 Mar
• Pharmacogenetics of immunosuppressants: State of the art and clinical implementation - recommendations from the French National Network of Pharmacogenetics (RNPGx).  
   Woillard Jean-Baptiste et al. Therapie 2017 Jan

News/Reviews/Commentaries

• All biology is computational biology  
   F Markowetz, PLOS Biology, March 2017
• Request for Information on Processes for dbGaP Data Submission, Access, and Management  

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.