Genomics & Health Impact Scan Database|Weekly Scan|PHGKB

Genomics & Health Impact Scan Database|Weekly Scan|PHGKB

Publication Date: Sep 28, 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. View Data Selection Criteria

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Human Genomics across the Lifespan

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

Birth Defects and Child Health

• The Promise of Precision Health: Sienna's Story  
  Genome Canada Video, Sep 2017
• Gene Therapy Helps Treat Boy's Rare Immune Disorder  
  Dana Farber Inst, Sep 2017
• This Is How Much of Autism Is Genetic  
  A Park, Time, Sep 26, 2017
• Long QT syndrome and sudden unexpected infant death.  
  Van Niekerk Chantal et al. Journal of clinical pathology 2017 Sep 70(9) 808-813
• The Yield of Multigene Testing in the Management of Pediatric Unilateral Sensorineural Hearing Loss.  
  Gruber Maayan et al. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2016 Sep 37(8) 1066-70

Cancer

• [Clinical utility study of 21-gene assay in 927 Chinese patients with early breast cancer].  
  Wu J Y et al. Zhonghua zhong liu za zhi [Chinese journal of oncology] 2017 Sep 39(9) 668-675
• Hybrid capture-based genomic profiling of circulating tumor DNA from patients with estrogen receptor-positive metastatic breast cancer.  
  Chung J H et al. Annals of oncology : official journal of the European Society for Medical Oncology 2017 Aug
• The big question: Will cancer immune therapy work for me?  
  Stat News Associated Press, Sep 20, 2017
• The power of shared experience: Empowering women to face their cancer risk  
  K Lopez, NSGC Blog Post, Sep 2017
• What to Know About Lynch Syndrome  
  K Hall, US News, Sep 2017
• ACOG's Updated Breast and Ovarian Cancer Syndrome Guidance: What to Know,  
  by Andrew M. Kaunitz, MD, Medscape, September 26, 2017
• Integrating genomics into population-based cancer surveillance in the era of precision medicine 
  MJ Khoury, CDC Blog Post, Sep 2017
• Developing effective ctDNA testing services for lung cancer  
  PHG foundation, Sep 19, 2017
• Dr. Ginsburg on Genetic Testing in Ovarian Cancer Families,  
  OncLive, September 18, 2017
• CME ACTIVITY-Clinical Anthology: Educating Medical Providers About Breast Cancer in Young Women 
• Screening for germline mutations in mismatch repair genes in patients with Lynch syndrome by next generation sequencing.  
  Soares Barbara Luísa et al. Familial cancer 2017 Sep
• Breadth of Genetic Testing Selected by Patients at Risk of Hereditary Breast and Ovarian Cancer.  
  Szender J Brian et al. International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2017 Sep
• Next-generation sequencing (NGS) of cell-free circulating tumor DNA and tumor tissue in patients with advanced urothelial cancer: a pilot assessment of concordance.  
  Barata P C et al. Annals of oncology : official journal of the European Society for Medical Oncology 2017 Aug
• Clinical management of pheochromocytoma and paraganglioma in Singapore: missed opportunities for genetic testing.  
  Chew Winston Hong Wern et al. Molecular genetics & genomic medicine 2017 Sep 5(5) 602-607
• Precision Medicine Is Our Best Hope In The Fight Against Cancer  
  Medical Futurist Newsletter
• Evaluation of psychosocial aspects in participants of cancer genetic counseling.  
  González-Ramírez Leivy Patricia et al. Hereditary cancer in clinical practice 2017 1513
• Genetic Testing: Challenges and Changes in Testing for Hereditary Cancer Syndromes
.  
  King Elisabeth et al. Clinical journal of oncology nursing 2017 Oct 21(5) 589-598
• Genetic predisposition in children with cancer - affected families' acceptance of Trio-WES.  
  Brozou Triantafyllia et al. European journal of pediatrics 2017 Sep
• Trends in utilization and costs of BRCA testing among women aged 18-64 years in the United States, 2003-2014.  
  Chen Zhuo et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Sep
• Evaluation of current prediction models for Lynch syndrome: updating the PREMM5 model to identify PMS2 mutation carriers.  
  Goverde A et al. Familial cancer 2017 Sep
• Evaluation of an online family history tool for identifying hereditary and familial colorectal cancer.  
  Kallenberg F G J et al. Familial cancer 2017 Sep
• Cancer Predisposition Cascade Screening for Hereditary Breast/Ovarian Cancer and Lynch Syndromes in Switzerland: Study Protocol.  
  Katapodi Maria C et al. JMIR research protocols 2017 Sep 6(9) e184
• ABCG2 and NCF4 polymorphisms are associated with clinical outcomes in diffuse large B-cell lymphoma patients treated with R-CHOP.  
  Liu Duo et al. Oncotarget 2017 Aug 8(35) 58292-58303
• Validation of GEMCaP as a DNA based biomarker to predict prostate cancer recurrence after radical prostatectomy.  
  Nguyen Hao G et al. The Journal of urology 2017 Sep
• Genomic Scores are Independent of Disease Volume in Men with Favorable Risk Prostate Cancer: Implications for Choosing Men for Active Surveillance.  
  Nyame Yaw A et al. The Journal of urology 2017 Sep

Chronic Disease

• Genetic risk scores and family history as predictors of schizophrenia in Nordic registers.  
  Lu Y et al. Psychological medicine 2017 Sep 1-9
• Armed With Genetic Knowledge, Now They're Waiting for Alzheimer's  
  E Woodruff, Being Patient, Sep 2017
• Targeted exome sequencing in anti-factor H antibody negative HUS reveals multiple variations.  
  Thergaonkar R W et al. Clinical and experimental nephrology 2017 Sep
• 1993-2014: two decades of predictive testing for Huntington's disease at the Medical Genetics Unit of the University of Genoa.  
  Mandich Paola et al. Molecular genetics & genomic medicine 2017 Sep 5(5) 473-480
• Validation of a 52-gene risk profile for outcome prediction in patients with idiopathic pulmonary fibrosis: an international, multicentre, cohort study. 
  Herazo-Maya Jose D et al. The Lancet. Respiratory medicine 2017 Sep

Ethics/Policy/Law

• Exploring the potential duty of care in clinical genomics under UK law.  
  Mitchell Colin et al. Medical law international 2017 Sep 17(3) 158-182
• The ethics of genome editing in the clinic: A dose of realism for healthcare leaders.  
  Bubela Tania et al. Healthcare management forum 2017 May 30(3) 159-163
• Our genes, our selves: hereditary breast cancer and biological citizenship in Norway.  
  Møller Pål et al. Medicine, health care, and philosophy 2017 Sep

Practice

• Precision Medicine Initiative begins enrolling participants in cohort  
  S Slabodkin, Health Data Management,Sep 2017
• To advance medicine’s future, the NIH tries to win the trust of communities mistreated in the past  
  L Facher, Stat News, Sep 20, 2017
• Fit in my 40s: 'A DNA test is like going to a fortune teller, with science'  
  Z Williams, The Guardian, Sep 23, 2017
• Enrolling Genomics Research Participants through a Clinical Setting: the Impact of Existing Clinical Relationships on Informed Consent and Expectations for Return of Research Results.  
  Berrios Courtney et al. Journal of genetic counseling 2017 Sep
• Next-generation sequencing in the clinical setting clarifies patient characteristics and potential actionability.  
  Bieg-Bourne Cheyennedra C et al. Cancer research 2017 Sep
• Multicohort analysis reveals baseline transcriptional predictors of influenza vaccination responses.  
  et al. Science immunology 2017 Aug 2(14)
• Health and well-being management in the military: a systematic review of genetic studies.  
  Parnell Nathan et al. Journal of the Royal Army Medical Corps 2017 Sep

Cardiovascular Diseases

• JAMA Publication Creates Significant Buzz About Familial Hypercholesterolemia  
  Stanford Medicine, Sep 2017
• Association of a Family History of Atrial Fibrillation With Incidence and Outcomes of Atrial Fibrillation: A Population-Based Family Cohort Study.  
  Chang Shang-Hung et al. JAMA cardiology 2017 Aug 2(8) 863-870
• Should ACS Patients Undergo FH Genetic Screening?  
  by Nicole Lou, Medpage Today, September 25, 2017
• Genomic basis of atrial fibrillation.  
  Bapat Aneesh et al. Heart (British Cardiac Society) 2017 Sep
• Gene Therapy for Atrial Fibrillation in Heart Failure.  
  Arora R et al. Clinical pharmacology and therapeutics 2017 Aug 102(2) 200-202
• FH Diagnosis App  
  From the FH foundation to help providers and patients
• Genetically Confirmed Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome  
  Amor-Salamanca A, et al. JACC 70(14); October 2017
• Familial Hypercholesterolemia: The Hidden Cholesterol Condition  
  Cleveland Heart Lab, Sep 25, 2017
• Genetics of Atrial Fibrillation: State of the Art in 2017.  
  Fatkin Diane et al. Heart, lung & circulation 2017 Sep 26(9) 894-901
• Familial hypercholesterolemia in primary care in Germany. Diabetes and cardiovascular risk evaluation: Targets and Essential Data for Commitment of Treatment (DETECT) study.  
  Schmidt Nina et al. Atherosclerosis 2017 Aug 26624-30

Pharmacogenomics

• Pharmacogenomic Testing and Warfarin  
  JD Emery et al, JAMA Sep 26, 2017
• Effect of Genotype-Guided Warfarin Dosing on Clinical Events and Anticoagulation Control Among Patients Undergoing Hip or Knee Arthroplasty  
  BF Gage et al, JAMA 26, Sep 2017

Reproductive Health

• DNA surgery on embryos removes disease  
  J Gallagher, BBC News, Sep 28, 2017
• The NextGen Study: patient motivation for participation in genome sequencing for carrier status.  
  Kauffman Tia L et al. Molecular genetics & genomic medicine 2017 Sep 5(5) 508-515
• Implementing non-invasive prenatal testing for aneuploidy in a national healthcare system: global challenges and national solutions.  
  van Schendel Rachèl V et al. BMC health services research 2017 Sep 17(1) 670
• First genome editing of human embryos by UK scientists  
  P Waldron, Bio News UK, Sep 25, 2017
• A Pilot Study of Noninvasive Prenatal Diagnosis of Alpha- and Beta-Thalassemia with Target Capture Sequencing of Cell-Free Fetal DNA in Maternal Blood.  
  Wang Wenjuan et al. Genetic testing and molecular biomarkers 2017 Jul 21(7) 433-439

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.