Genomics & Health Impact Scan Database|Weekly Scan|PHGKB

Genomics & Health Impact Scan Database|Weekly Scan|PHGKB

Publication Date: Feb 21, 2019

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
• Ethical, Legal and Social Issues (ELSI)
• General Practice
• Heart, Lung, Blood and Sleep Diseases
• Newborn Screening
• Pharmacogenomics
• Reproductive Health
• Funding

Birth Defects and Child Health

• Evaluation of TGFBI corneal dystrophy and molecular diagnostic testing.
  Chao-Shern Connie et al. Eye (London, England) 2019 Feb
• Chromosomal Microarray Analysis in Children with Unexplained Developmental Delay/Intellectual Disability.
  Arican Pinar et al. Journal of pediatric genetics 2019 Mar 8(1) 1-9
• Wilson's Disease: Clinical Practice Guidelines of the Indian National Association for Study of the Liver, the Indian Society of Pediatric Gastroenterology, Hepatology and Nutrition, and the Movement Disorders Society of India.
  Nagral Aabha et al. Journal of clinical and experimental hepatology 9(1) 74-98
• International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
  Altassan Ruqaiah et al. Journal of inherited metabolic disease 2019 Jan 42(1) 5-28
• Treatment and long-term outcome in primary distal renal tubular acidosis.
  Lopez-Garcia Sergio Camilo et al. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2019 Feb
• A semi-automated whole exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.
  Ji Jianling et al. Cold Spring Harbor molecular case studies 2019 Feb
• Management of Hereditary Spastic Paraplegia: A Systematic Review of the Literature.
  Bellofatto Marta et al. Frontiers in neurology 2019 103

Cancer

• Impact of gene-specific germline pathogenic variants on presentation of endometrial cancer in Lynch syndrome.
  Bogani Giorgio et al. International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2019 Feb
• Understanding Skin Screening Practices Among Children at Elevated Risk for Melanoma to Inform Interventions for Melanoma Prevention and Control.
  Parsons Bridget G et al. Journal of cancer education : the official journal of the American Association for Cancer Education 2019 Feb
• Attitude towards and factors affecting uptake of population based BRCA testing in the Ashkenazi Jewish population: a cohort study.
  Manchanda Ranjit et al. BJOG : an international journal of obstetrics and gynaecology 2019 Feb
• Ability of a urine gene expression classifier to reduce the number of follow-up cystoscopies in bladder cancer patients.
  Montalbo Ruth et al. Translational research : the journal of laboratory and clinical medicine 2019 Feb
• 21-Gene Recurrence Score Assay and Outcomes of Adjuvant Radiotherapy in Elderly Women With Early-Stage Breast Cancer After Breast-Conserving Surgery.
  Wu San-Gang et al. Frontiers in oncology 2019 91
• Draft Recommendation Statement and Draft Evidence Review: Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer 
• Predictive Biomarkers for Checkpoint Blockade in Urothelial Cancer: A Systematic Review.
  Lavoie Jean-Michel et al. The Journal of urology 2019 Feb
• Trends in BRCA Test Utilization in an Integrated Health System, 2005-2015.
  Knerr Sarah et al. Journal of the National Cancer Institute 2019 Feb
• Colorectal Cancer in Individuals With Familial Adenomatous Polyposis, Based on Analysis of the Danish Polyposis Registry.
  Karstensen John Gásdal et al. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2019 Feb
• Consensus guidelines for genetic testing for hereditary breast and ovarian cancer
  American Society for Breast Surgeons, February 14, 2019

Chronic Disease

• The genetic Creutzfeldt-Jakob disease with E200K mutation: analysis of clinical, genetic and laboratory features of 30 Chinese patients.
  Gao Li-Ping et al. Scientific reports 2019 Feb 9(1) 1836
• The utility of whole exome sequencing in diagnosing neurological disorders in adults from a highly consanguineous population.
  Mu Weiyi et al. Journal of neurogenetics 2019 Feb 1-6
• GeneMatch: A novel recruitment registry using at-home APOE genotyping to enhance referrals to Alzheimer's prevention studies.
  Langbaum Jessica B et al. Alzheimer's & dementia : the journal of the Alzheimer's Association 2019 Feb
• Body mass index and C-peptide are important for the promptly differential diagnosis of maturity-onset diabetes from familial type 2 diabetes in outpatient clinic.
  Wu Hui-Xuan et al. Endocrine journal 2019 Feb

Ethical, Legal and Social Issues (ELSI)

• Ensuring privacy and security of genomic data and functionalities.
  Mohammed Yakubu Abukari et al. Briefings in bioinformatics 2019 Feb
• Are Requirements to Deposit Data in Research Repositories Compatible With the European Union's General Data Protection Regulation?
  Mascalzoni Deborah et al. Annals of internal medicine 2019 Feb

General Practice

• Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis.
  Zhang Lei et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Feb
• A commentary on population genetic testing for primary prevention: changing landscape and the need to change paradigm.
  Manchanda Ranjit et al. BJOG : an international journal of obstetrics and gynaecology 2019 Feb
• Ten years of Genome Medicine
  C Auffray et al, Genome Medicine, February 15, 2019
• A novel approach to offering additional genomic findings-A protocol to test a two-step approach in the healthcare system.
  Martyn Melissa et al. Journal of genetic counseling 2019 Feb
• Health research: Applying genome technologies to the study of disease
  Open Access News, February 18, 2019

Heart, Lung, Blood and Sleep Diseases

• HemoTypeSC, a low-cost point-of-care testing device for sickle cell disease: Promises and challenges.
  Nnodu Obiageli et al. Blood cells, molecules & diseases 2019 Feb
• Single tube allele specific PCR: a low cost technique for molecular screening of sickle cell anaemia in Nigeria.
  Toye Emuejevoke T et al. African health sciences 2018 Dec 18(4) 995-1002
• Heart failure in patients with arrhythmogenic right ventricular cardiomyopathy: Genetic characteristics.
  Vischer Annina S et al. International journal of cardiology 2019 Jan
• Prevalence of pathogenic and likely pathogenic variants in the RASopathy genes in patients who have had panel testing for cardiomyopathy.
  Aljeaid Deema et al. American journal of medical genetics. Part A 2019 Feb
• Genetic testing for familial hypercholesterolemia: Impact on diagnosis, treatment and cardiovascular risk.
  Lee Seohyuk et al. European journal of preventive cardiology 2019 Feb 2047487319829746
• Genetic profiling for disease stratification in chronic obstructive pulmonary disease and asthma.
  Rathnayake Senani N H et al. Current opinion in pulmonary medicine 2019 Feb
• Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.
  Jääskeläinen Pertti et al. ESC heart failure 2019 Feb

Newborn Screening

• Impact of NBS for VLCAD deficiency on genetic, enzymatic and clinical outcomes.
  Bleeker Jeannette C et al. Journal of inherited metabolic disease 2019 Feb
• Diagnostic and service impact of genomic testing technologies in a neonatal intensive care unit.
  Tan Natalie B et al. Journal of paediatrics and child health 2019 Feb

Pharmacogenomics

• Clinical Utility of CYP2C19 Genotyping to Guide Antiplatelet Therapy in Patients With an Acute Coronary Syndrome or Undergoing Percutaneous Coronary Intervention.
  Klein Melissa D et al. Arteriosclerosis, thrombosis, and vascular biology 2019 Feb ATVBAHA118311963

Reproductive Health

• Expanded genetic carrier screening in clinical practice: a current survey of patient impressions and attitudes.
  Pereira Nigel et al. Journal of assisted reproduction and genetics 2019 Feb

Funding

• Initiative to Maximize Research Education in Genomics: Courses (R25 Clinical Trial Not Allowed), 
  NIH, February 12, 2019
• CDC-RFA-DP19-1905: The CDC Cancer Genomics Program: Translating Research into Public Health Practice 

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