Genomics & Precision Health Database| the Genomics & Health Impact Weekly Sca|PHGKB

Genomics & Precision Health Database| the Genomics & Health Impact Weekly Sca|PHGKB

Publication Date: Jul 25, 2019

Human Genomics across the Lifespan

• Birth Defects/Child Health
• Cancer
• Chronic Disease
• Ethical, Legal and Social Issues (ELSI)
• General Practice
• Heart, Lung, Blood and Sleep Diseases
• Newborn Screening
• Pharmacogenomics
• Reproductive Health

Birth Defects and Child Health

• A clinical scoring system for congenital contractural arachnodactyly.
  Meerschaut Ilse et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Jul
• Clinical utility of a targeted next generation sequencing panel in severe and pediatric onset Mendelian diseases.
  Isik Esra et al. European journal of medical genetics 2019 Jul 103725
• DNA sequencing study suggests common genetic basis for epilepsy
  by Abbey Bigler, Broad Institute, July 23, 2019
• Biomarkers improve prediction of 30-day unplanned readmission or mortality after paediatric congenital heart surgery.
  Brown Jeremiah R et al. Cardiology in the young 2019 Jul 1-6
• The utility of next generation sequencing in the correct diagnosis of congenital hypochloremic hypokalemic metabolic alkalosis.
  Ben-David Yael et al. European journal of medical genetics 2019 Jul 103728
• CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases.
  Kasak Laura et al. Human mutation 2019 Jul

Cancer

• The Genetics of Non-Syndromic Primary Ovarian Insufficiency: A Systematic Review.
  Venturella Roberta et al. International journal of fertility & sterility 2019 Oct 13(3) 161-168
• Lynch Syndrome Screening in Gynecological Cancers: Results of an International Survey with Recommendations for Uniform Reporting Terminology for Mismatch Repair Immunohistochemistry Results.
  Ryan Neil et al. Histopathology 2019 Jul
• A preliminary report of head-to-head comparison of 18-gene-based clinical-genomic model and oncotype DX 21-gene assay for predicting recurrence of early-stage breast cancer.
  Yang Po-Sheng et al. Japanese journal of clinical oncology 2019 Jul
• Methods for Development of the European Commission Initiative on Breast Cancer Guidelines: Recommendations in the Era of Guideline Transparency.
  Schünemann Holger J et al. Annals of internal medicine 2019 Jul
• Assessing the effectiveness of the National Comprehensive Cancer Network genetic testing guidelines in identifying African American breast cancer patients with deleterious genetic mutations.
  Ademuyiwa Foluso O et al. Breast cancer research and treatment 2019 Jul
• Clinical Factors Associated With Gastric Cancer in Individuals with Lynch Syndrome.
  Kim Jaihwan et al. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2019 Jul
• Comparison of screening strategies for Lynch syndrome in patients with newly diagnosed endometrial cancer: a prospective cohort study in China.
  Chao Xiaopei et al. Cancer communications (London, England) 2019 Jul 39(1) 42
• Use of Biomarkers to Guide Decisions on Adjuvant Systemic Therapy for Women With Early-Stage Invasive Breast Cancer: ASCO Clinical Practice Guideline Update Summary.
  Andre Fabrice et al. Journal of oncology practice 2019 Jul JOP1900264
• Cost effectiveness of Gene Expression Profiling in Patients with Early-Stage Breast Cancer in a Middle-Income Country, Turkey: Results of a Prospective Multicenter Study.
  Özmen Vahit et al. European journal of breast health 2019 Jul 15(3) 183-190
• Identification and monitoring of somatic mutations in circulating cell-free tumor DNA in lung cancer patients.
  Francaviglia Ilaria et al. Lung cancer (Amsterdam, Netherlands) 2019 Aug 134225-232
• Clinical utility of FoundationOne tissue molecular profiling in men with metastatic prostate cancer.
  Zhu Jason et al. Urologic oncology 2019 Jul

Chronic Disease

• Lifetime Risk and Heritability of Amyotrophic Lateral Sclerosis.
  Ryan Marie et al. JAMA neurology 2019 Jul

Ethical, Legal and Social Issues (ELSI)

• Insurance coverage does not predict outcomes of genetic testing: The search for meaning in payer decisions for germline cancer tests.
  Amendola Laura M et al. Journal of genetic counseling 2019 Jul
• Attitudes Regarding Enrollment in a Genetic Research Project: An Informed Consent Simulation Study Comparing Views of People With Depression, Diabetes, and Neither Condition.
  Kim Jane Paik et al. Journal of empirical research on human research ethics : JERHRE 2019 Jul 1556264619862467
• Consent for clinical genome sequencing: considerations from the Clinical Sequencing Exploratory Research Consortium.
  Yu Joon-Ho et al. Personalized medicine 2019 Jul
• Return of raw data in genomic testing and research: ownership, partnership, and risk-benefit.
  May Thomas et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Jul

General Practice

• A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis.
  Tan Tiong Yang et al. European journal of human genetics : EJHG 2019 Jul
• So What Does It Mean? Making Sense of Genetic Test Results.
  Krokosky Alyson et al. Genetic testing and molecular biomarkers 2019 Jul

Heart, Lung, Blood and Sleep Diseases

• Prevalence, risk factor burden, and severity of coronary artery disease in patients with heterozygous familial hypercholesterolemia hospitalized for an acute myocardial infarction: Data from the French RICO survey.
  Farnier Michel et al. Journal of clinical lipidology 2019 Jun
• Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.
  Campuzano Oscar et al. Journal of clinical medicine 2019 Jul 8(7)
• Pitfalls and caveats in α1-antitrypsin deficiency testing: a guide for clinicians.
  Franciosi Alessandro N et al. The Lancet. Respiratory medicine 2019 Jul
• A tailored approach towards informing relatives at risk of inherited cardiac conditions: study protocol for a randomised controlled trial.
  van den Heuvel Lieke M et al. BMJ open 2019 Jul 9(7) e025660
• The national blueprint for future basic and translational research to understand factor VIII immunogenicity: NHLBI State of the Science Workshop on factor VIII inhibitors.
  Meeks Shannon L et al. Haemophilia : the official journal of the World Federation of Hemophilia 2019 Jul 25(4) 595-602
• Using machine learning to predict one-year cardiovascular events in patients with severe dilated cardiomyopathy.
  Chen Rui et al. European journal of radiology 2019 Aug 117178-183
• No. 163-Gynaecological and Obstetric Management of Women With Inherited Bleeding Disorders.
  Demers Christine et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2018 Feb 40(2) e91-e103
• Identifying Perceptions and Preferences of the General Public Concerning Universal Screening of Children for Familial Hypercholesterolaemia.
  Bowman Faye L et al. Public health genomics 2019 Jul 1-11
• Making precision medicine personal for cystic fibrosis.
  Manfredi Candela et al. Science (New York, N.Y.) 2019 365(6450) 220-221

Newborn Screening

• The Importance of Assay Imprecision near the Screen Cutoff for Newborn Screening of Lysosomal Storage Diseases.
  Robinson Bruce H et al. International journal of neonatal screening 2019 Jun 5(2)
• Early Check: translational science at the intersection of public health and newborn screening.
  Bailey Donald B et al. BMC pediatrics 2019 Jul 19(1) 238
• Positive Newborn Screening for Cystic Fibrosis, What to Do Next?
  Kumar Prawin et al. Indian journal of pediatrics 2019 Jul

Pharmacogenomics

• Ready or not, here it comes: Direct-to-consumer pharmacogenomic testing and its implications for community pharmacists.
  Gammal Roseann S et al. Journal of the American Pharmacists Association : JAPhA 2019 Jul
• Genetic testing for prevention of severe drug-induced skin rash.
  Alfirevic Ana et al. The Cochrane database of systematic reviews 2019 Jul 7CD010891
• Use of Pharmacogenetic Drugs by the Dutch Population.
  Alshabeeb Mohammad A et al. Frontiers in genetics 2019 10567
• Inconsistency in race and ethnic classification in pharmacogenetics studies and its potential clinical implications.
  Zhang Frederick et al. Pharmacogenomics and personalized medicine 2019 12107-123
• Gene Variants at Loci Related to Blood Pressure Account for Variation in Response to Antihypertensive Drugs Between Black and White Individuals.
  Iniesta Raquel et al. Hypertension (Dallas, Tex. : 1979) 2019 Jul HYPERTENSIONAHA11812177
• Patient and Health Care Provider Needs and Preferences in Understanding Pharmacogenomic and Genomic Testing: A Meta-Data Analysis.
  Veilleux Sophie et al. Qualitative health research 2019 Jul 1049732319858325

Reproductive Health

• Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype.
  Van Opstal Diane et al. Prenatal diagnosis 2019 Jul
• Prenatal and preconception genetic counseling for consanguinity: Consanguineous couples' expectations, experiences, and perspectives.
  Thain Emily et al. Journal of genetic counseling 2019 Jul
• A Capabilities Approach to Prenatal Screening for Fetal Abnormalities.
  Stapleton Greg et al. Health care analysis : HCA : journal of health philosophy and policy 2019 Jul
• The role of ultrasound in the choice between chorionic villus sampling and amniocentesis for patients with a positive NIPT result for trisomy 18/13.
  Zhen Li et al. Prenatal diagnosis 2019 Jul
• Preimplantation genetic diagnosis (PGD) and genetic testing for aneuploidy (PGT-A): status and future challenges.
  Sciorio Romualdo et al. Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology 2019 Jul 1-6
• Cell-free fetal DNA screening for detection of microdeletion syndromes: A cost-effectiveness analysis.
  Avram Carmen M et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2019 Jul 1-251
• Hereditary thrombophilia genetic variants in recurrent pregnancy loss.
  Ahangari Najmeh et al. Archives of gynecology and obstetrics 2019 Jul

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.