Genomics & Health Impact Scan Database|Weekly Scan|PHGKB

Genomics & Health Impact Scan Database|Weekly Scan|PHGKB

Publication Date: Dec 13, 2018

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
• 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

• Sibling Recurrence Risk and Cross-aggregation of Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder.
  Miller Meghan et al. JAMA pediatrics 2018 Dec
• Alport syndrome: deducing the mode of inheritance from the presence of haematuria in family members.
  Savige Judy et al. Pediatric nephrology (Berlin, Germany) 2018 Nov
• National Birth Defects Prevention Month 
• 2019 Digital Toolkit: NATIONAL BIRTH DEFECTS PREVENTION MONTH 
• Views from the clinic: Healthcare provider perspectives on whole genome sequencing in paediatrics.
  Szego M J et al. European journal of medical genetics 2018 Nov
• Delivering the Diagnosis of Sex Chromosome Aneuploidy: Experiences and Preferences of Parents and Individuals.
  Jaramillo Carolina et al. Clinical pediatrics 2018 Dec 9922818817310

Cancer

• Genetic cancer risk assessment in general practice: systematic review of tools available, clinician attitudes, and patient outcomes.
  Laforest Flore et al. The British journal of general practice : the journal of the Royal College of General Practitioners 2018 Dec
• High-accuracy Detection of Preoperative Thyroid Nodules Using Combination of BRAF V600E Mutation and TMPRSS4 mRNA Level.
  Zhang Yanfang et al. Archives of medical research 2018 Dec
• Clinical utility of microRNA-451 as diagnostic biomarker for human cancers.
  Li Zhanzhan et al. Bioscience reports 2018 Dec
• Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels.
  Lee Kristy et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Dec
• Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle? 
  PD Beitsch et al, JCO, December 10, 2018
• Should next-generation sequencing testing be routinely used in metastatic colorectal cancer?
  Dienstmann Rodrigo et al. The Lancet. Oncology 2018 Nov 19(11) 1434-1435
• Can I Inherit Cancer? Understanding Cancer Genetics and Testing 
• Risk-Reducing Mastectomy in BRCA1 and BRCA2 Mutation Carriers: A Complex Discussion.
  Domchek Susan M et al. JAMA 2018 Dec
• Next-generation sequencing with a 54-gene panel identified unique mutational profile and prognostic markers in Chinese patients with myelofibrosis.
  Gill Harinder et al. Annals of hematology 2018 Dec
• A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome.
  Drost Mark et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Dec
• Universal screening for Lynch Syndrome in a large consecutive cohort of Chinese colorectal cancer patients: high prevalence and unique molecular features.
  Jiang Wu et al. International journal of cancer 2018 Dec
• Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.
  Pugh Jennifer et al. JAMA dermatology 2018 Dec
• A PALB2 truncating mutation: Implication in cancer prevention and therapy of Hereditary Breast and Ovarian Cancer.
  Velázquez Carolina et al. Breast (Edinburgh, Scotland) 2018 Nov 4391-96
• Cost effectiveness of the cancer prevention program for carriers of the BRCA1/2 mutation.
  Ramos Marcelo Cristiano de Azevedo et al. Revista de saude publica 2018 Nov 5294
• MGMT Promoter Methylation Cutoff with Safety Margin for Selecting Glioblastoma Patients into Trials Omitting Temozolomide. A Pooled Analysis of Four Clinical Trials.
  Hegi Monika E et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2018 Dec
• Communication About Hereditary Cancers on Social Media: A Content Analysis of Tweets About Hereditary Breast and Ovarian Cancer and Lynch Syndrome.
  Allen Caitlin G et al. Journal of cancer education : the official journal of the American Association for Cancer Education 2018 Dec
• Dose-adjusted EPOCH-R (etoposide, prednisone, vincristine, cyclophosphamide, doxorubicin, and rituximab) in untreated aggressive diffuse large B-cell lymphoma with MYC rearrangement: a prospective, multicentre, single-arm phase 2 study.
  Dunleavy Kieron et al. The Lancet. Haematology 2018 Dec 5(12) e609-e617

Ethical, Legal and Social Issues (ELSI)

• Reasonable expectations of privacy in non-disclosure of familial genetic risk: What is it reasonable to expect?
  Chico Victoria et al. European journal of medical genetics 2018 Dec
• Ethical conundrums in pediatric genomics.
  Rotz Seth J et al. Hematology. American Society of Hematology. Education Program 2018 Nov 2018(1) 301-306

General Practice

• Workload measurement for molecular genetics laboratory: A survey study.
  Tagliafico Enrico et al. PloS one 2018 13(11) e0206855
• Data resource profile: Cardiovascular H3Africa Innovation Resource (CHAIR).
  Owolabi Mayowa O et al. International journal of epidemiology 2018 Dec
• Developing a Process for Returning Medically Actionable Genomic Variants to Latino Patients in a Federally Qualified Health Center.
  Shaibi Gabriel Q et al. Public health genomics 2018 Dec 1-8
• Fostering trust in healthcare: Participants' experiences, views, and concerns about the 100,000 genomes project.
  Dheensa Sandi et al. European journal of medical genetics 2018 Nov

Heart, Lung, Blood and Sleep Diseases

• White Paper: Pathways to Progress in Newborn Screening for Sickle Cell Disease in Sub-Saharan Africa.
  Hsu Lewis et al. Journal of tropical diseases & public health 2018 6(2) 260
• Rapid Detection of Fetal Mendelian Disorders: Thalassemia and Sickle Cell Syndromes.
  Traeger-Synodinos Joanne et al. Methods in molecular biology (Clifton, N.J.) 2019 1885207-219
• Importance of health guidance for family members of children with sickle cell disease.
  Figueiredo Sarah Vieira et al. Revista brasileira de enfermagem 71(6) 2974-2982
• The current state of sickle cell trait: implications for reproductive and genetic counseling.
  Pecker Lydia H et al. Hematology. American Society of Hematology. Education Program 2018 Nov 2018(1) 474-481
• Polygenic risk score identifies associations between sleep duration and diseases determined from an electronic medical record biobank.
  Dashti Hassan S et al. Sleep 2018 Dec
• Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield.
  Thomson Kate L et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Dec
• Advancing FH Care at NHLBI Workshop on Implementation Science and FH
  The FH Foundation, December 10, 2018

Newborn Screening

• Secondary research uses of residual newborn screening dried bloodspots: a scoping review.
  Rothwell Erin et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Dec
• Metabolic Signatures of Cystic Fibrosis Identified in Dried Blood Spots For Newborn Screening Without Carrier Identification.
  DiBattista Alicia et al. Journal of proteome research 2018 Dec

Pharmacogenomics

• Pharmacogenetic Association between NAT2 Gene Polymorphisms and Isoniazid Induced Hepatotoxicity: Trial Sequence Meta-analysis as Evidence.
  Khan Saif et al. Bioscience reports 2018 Dec
• Pharmacogenetic tests and depressive symptom remission: a meta-analysis of randomized controlled trials.
  Bousman Chad A et al. Pharmacogenomics 2019 Jan 20(1) 37-47
• Prevalence of pharmacogenomic variants affecting the efficacy of clopidogrel therapy in the Hispanic Community Health Study/Study of Latinos cohort.
  Melin Kyle et al. Pharmacogenomics 2018 Dec
• Patients carrying CYP2C8*3 have shorter systemic paclitaxel exposure.
  Marcath Lauren A et al. Pharmacogenomics 2018 Dec
• Pharmacogenetics of Type 2 Diabetes Mellitus, the route toward tailored medicine.
  Mannino Gaia Chiara et al. Diabetes/metabolism research and reviews 2018 Dec e3109

Reproductive Health

• Prenatal Diagnosis of Cystic Fibrosis.
  Fedick Anastasia M et al. Methods in molecular biology (Clifton, N.J.) 2019 1885221-231
• Detection of Aneuploidy and Unbalanced Rearrangements Using Comparative Genomic Hybridization Microarrays.
  Rodrigo Vivó Lorena et al. Methods in molecular biology (Clifton, N.J.) 2019 188573-84
• Molecular Testing for Preimplantation Genetic Diagnosis of Single Gene Disorders.
  Zimmerman Rebekah S et al. Methods in molecular biology (Clifton, N.J.) 2019 188561-71
• Noninvasive Approaches to Prenatal Diagnosis: Historical Perspective and Future Directions.
  Hui Lisa et al. Methods in molecular biology (Clifton, N.J.) 2019 188545-58
• Noninvasive Detection of Fetal Aneuploidy Using Next Generation Sequencing.
  Curnow Kirsten J et al. Methods in molecular biology (Clifton, N.J.) 2019 1885325-345
• Overview of Preimplantation Genetic Diagnosis (PGD): Historical Perspective and Future Direction.
  Simpson Joe Leigh et al. Methods in molecular biology (Clifton, N.J.) 2019 188523-43
• Prenatal Detection of Chromosome Aneuploidy by Quantitative Fluorescence PCR.
  Mann Kathy et al. Methods in molecular biology (Clifton, N.J.) 2019 1885139-160
• Prenatal Diagnosis by Whole Exome Sequencing in Fetuses with Ultrasound Abnormalities.
  Felice Vanessa et al. Methods in molecular biology (Clifton, N.J.) 2019 1885267-285
• Aneuploidy Screening using Next Generation Sequencing.
  Cinnioglu Cengiz et al. Methods in molecular biology (Clifton, N.J.) 2019 188585-102
• Prenatal cell-free DNA screening test failures: a systematic review of failure rates, risks of Down syndrome, and impact of repeat testing.
  Palomaki Glenn E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 20(11) 1312-1323
• Health professionals' involvement and information provision in genetic counseling following prenatal diagnosis of sex chromosome aneuploidy in Hong Kong.
  So Po Lam et al. International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics 2018 Dec

Funding

• All of Us Research Program Issues Funding Opportunity for Genetic Counseling Resource
  NIH, November 30, 2018

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