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.
Human Genomics across the Lifespan
Birth Defects and Child Health
- 'IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases.
Lochmüller Hanns et al. European journal of human genetics : EJHG 2016 Oct - Application of SNPscan in Genetic Screening for Common Hearing Loss Genes.
Gao Zixuan et al. PloS one 2016 11(10) e0165650 - Commonplace Sequencing Makes Disease Less Rare
J Buguliskis, Clinical Omics, NOvember 1, 2016 - Insights into genetic susceptibility in the etiology of spontaneous preterm birth.
Parets Sasha E et al. The application of clinical genetics 2015 8283-90
Cancer
- Clinical and Pathological Characteristics of Incidental Diagnostic Early Occult Malignancy After Risk-Reducing Salpingo-Oophorectomy in BRCA Mutation Carriers.
Lavie Ofer et al. International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2016 Feb 26(2) 233-9 - The right drugs at the right time for the right patient: the MD Anderson precision oncology decision support platform.
Johnson Amber et al. Drug discovery today 2015 Dec 20(12) 1433-8 - Learn About Hereditary Pancreatic Cancer
L Rezende, Facing Our Risk Empowered, November 1, 2016 - Clinical utility of circulating tumor DNA for molecular assessment in pancreatic cancer.
Takai Erina et al. Scientific reports 2015 Dec 518425 - BRAF Mutation Testing and Metastatic Colorectal Cancer in the Community Setting: Is There an Urgent Need for More Education?
Price Timothy J et al. Molecular diagnosis & therapy 2016 Feb 20(1) 75-82 - Do Ovarian Cancer Patients with a Family History of Cancer (Suspected BRCA1 or BRCA2 Mutation) Suffer Greater Chemotherapy Toxicity?
Egloff Heidi et al. Cancer investigation 2016 Oct 1-5 - Genetics of Breast and Gynecologic Cancers (PDQ®)
NCI, October 2016 - Molecular profiling of advanced solid tumors and patient outcomes with genotype-matched clinical trials: the Princess Margaret IMPACT/COMPACT trial.
Stockley Tracy L et al. Genome medicine 2016 Oct 8(1) 109 - Integrating cancer genomic data into electronic health records.
Warner Jeremy L et al. Genome medicine 2016 Oct 8(1) 113 - Validation of an Efficient Screening Tool to Identify Low-Income Women at High Risk for Hereditary Breast Cancer.
Stewart Susan L et al. Public health genomics 2016 Oct - Cost-effectiveness of routine screening for Lynch syndrome in endometrial cancer patients up to 70years of age.
Goverde Anne et al. Gynecologic oncology 2016 Oct - Should we Perform Genetic Testing on Men with Metastatic Prostate Cancer?
Mikropoulos C et al. Clinical oncology (Royal College of Radiologists (Great Britain)) 2016 Oct - The cancer precision medicine knowledge base for structured clinical-grade mutations and interpretations.
Huang Linda et al. Journal of the American Medical Informatics Association : JAMIA 2016 Oct - The Precision Medicine Knowledge Base
Weil Cornell, October 2016 - A Genetics Toolkit for Healthcare Providers
Society for Gynecologic Oncology, October 2016 - Performance of multiplicom's BRCA MASTR Dx kit on the detection of BRCA1 and BRCA2 mutations in fresh frozen ovarian and breast tumor samples.
Badoer Cindy et al. Oncotarget 2016 Oct - Using Pharmacogenetics to Predict Cancer Prognosis, Response to Treatment, and Toxicity
J Cavallo, ASCO Post, October 25, 2016 - The impact of a panel of 18 SNPs on breast cancer risk in women attending a UK familial screening clinic: a case-control study.
Evans D Gareth et al. Journal of medical genetics 2016 Oct - Reproductive Decision-Making in Women with BRCA1/2 Mutations.
Chan Jessica L et al. Journal of genetic counseling 2016 Oct - Genetic factors affecting patient responses to pancreatic cancer treatment.
Fotopoulos George et al. Annals of gastroenterology : quarterly publication of the Hellenic Society of Gastroenterology 29(4) 466-476 - Revisiting breast cancer patients who previously tested negative for BRCA mutations using a 12-gene panel.
Moran Olivia et al. Breast cancer research and treatment 2016 Oct - A Genetics Toolkit for Healthcare Providers,
Society for Gynecologic Oncology, October 2016 - Advocacy group anecdotes present one-sided picture of genetic testing for breast cancer
MC Jaklevic, Health News Reviews, October 2016 - New Toolkit Can Help Debunk Myths About Genetic Testing for Gynecologic Cancer,
by Allie Casey, Cure, October 27, 2016 - Risk factors for pancreatic cancer include family history & genetics
American Cancer Society, 2016
Chronic Diseases
- Genetic Evaluation and Testing of Patients and Families with Idiopathic Pulmonary Fibrosis.
Kropski Jonathan A et al. American journal of respiratory and critical care medicine 2016 Oct
Ethics, Policy and Law
- Regulating whole exome sequencing as a diagnostic test.
Lapin Valentina et al. Human genetics 2016 Jun 135(6) 655-73 - Regulatory Oversight of Cell and Gene Therapy Products in Canada.
Ridgway Anthony et al. Advances in experimental medicine and biology 2015 87149-71 - Editorial commentary: Genetic testing in the absence of phenotype: When genetic testing may cause harm.
Gollob Md Michael H et al. Trends in cardiovascular medicine 2016 Oct - Lost in LDTs
C Anderson, Clinical Omics, November 1, 2016 - Geneticists should offer data to participants
S Nelson, Nature, November 1, 2016 - Europe moves to prevent genetic discrimination and insurance,
by Dr Philippa Brice, PHG Foundation, October 28, 2016
Genomics in Practice
- Genetic testing fumbles, revealing ‘dark side’ of precision medicine
S Begley, StatNews, October 31, 2016 - A primer on precision medicine informatics.
Sboner Andrea et al. Briefings in bioinformatics 2016 Jan 17(1) 145-53 - Outcomes of a randomised controlled trial of a complex genetic counselling intervention to improve family communication.
Hodgson Jan et al. European journal of human genetics : EJHG 2016 Mar 24(3) 356-60 - "Personalized nutrition” isn’t going to solve our diet problems
J Belluz, Vox, November 2, 2016 - A Systematic Review of Health Economic Evaluations of Diagnostic Biomarkers.
Oosterhoff Marije et al. Applied health economics and health policy 2016 Feb 14(1) 51-65 - Current recommendations: Screening for Mendelian disorders.
Rose Nancy C et al. Seminars in perinatology 2016 Feb 40(1) 23-8 - Is the $1000 Genome as Near as We Think? A Cost Analysis of Next-Generation Sequencing.
van Nimwegen Kirsten J M et al. Clinical chemistry 2016 Nov 62(11) 1458-1464 - It takes a genome to understand a village: Population scale precision medicine.
Butte Atul J et al. Proceedings of the National Academy of Sciences of the United States of America 2016 Oct - Mitochondrial diseases
SS Gorman et al, Nature Rev Disease Primers, October 2016 - Recommendation CM/Rec(2016)8 of the Committee of Ministers to the member States on the processing of personal health-related data for insurance purposes, including data resulting from genetic tests
- CRISPR/Cas9 and mitochondrial gene replacement therapy: promising techniques and ethical considerations.
Fogleman Sarah et al. American journal of stem cells 2016 5(2) 39-52 - Forty years later: Mitochondria as therapeutic targets in muscle diseases.
Zulian Alessandra et al. Pharmacological research 2016 Sep 113(Pt A) 563-573
Cardiovascular Diseases
- Referral Patterns and Cascade Screening for Familial Hypercholesterolemia in a Pediatric Lipid Clinic.
Stempel Hilary et al. The Journal of pediatrics 2016 Nov 178285-287 - Clinical Utility of Multi-marker Genetic Risk Scores for Prediction of Incident Coronary Heart Disease: A Cohort Study among over 51 Thousand Individuals of European Ancestry.
Iribarren Carlos et al. Circulation. Cardiovascular genetics 2016 Oct - Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship.
Sánchez-Hernández Rosa M et al. Circulation. Cardiovascular genetics 2016 Oct - Test cholesterol of one-year-olds to prevent early heart attacks, study suggests
The Guardian, October 26, 2016 - Challenges in the health economics of familial hypercholesterolemia.
Norman Richard et al. Current opinion in lipidology 2016 Oct
Newborn Screening
- AWHONN Position Statement. Newborn Screening.
et al. Journal of obstetric, gynecologic, and neonatal nursing : JOGNN 45(1) 135-6 - Newborn Screening for Lysosomal Storage Disorders: Quo Vadis?
Peake Roy W A et al. Clinical chemistry 2016 Nov 62(11) 1430-1438 - Newborn screening for sickle cell disease in Jamaica: logistics and experience with umbilical cord samples.
Serjeant G R et al. Journal of community genetics 2016 Oct
Reproductive Health
- Routine use of array comparative genomic hybridization (aCGH) as standard approach for prenatal diagnosis of chromosomal abnormalities. Clinical experience of 1763 prenatal cases.
Papoulidis Ioannis et al. Prenatal diagnosis 2015 Dec 35(13) 1269-77 - Clinical performance of non-invasive prenatal testing (NIPT) using targeted cell-free DNA analysis in maternal plasma with microarrays or next generation sequencing (NGS) is consistent across multiple controlled clinical studies.
Stokowski Renee et al. Prenatal diagnosis 2015 Dec 35(12) 1243-6 - IONA test for first-trimester detection of trisomies 21, 18 and 13.
Poon L C et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2016 Feb 47(2) 184-7 - Clinical evaluation of the IONA test: a non-invasive prenatal screening test for trisomies 21, 18 and 13.
Papageorghiou A T et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2016 Feb 47(2) 188-93 - Preimplantation genetic diagnosis for chromosomal rearrangements with the use of array comparative genomic hybridization at the blastocyst stage.
Christodoulou Christodoulos et al. Fertility and sterility 2016 Oct - Experiences among Women with Positive Prenatal Expanded Carrier Screening Results.
Rothwell Erin et al. Journal of genetic counseling 2016 Oct
Pharmacogenomics
- Pharmacogenetics and ethnicity: relevance for clinical implementation, clinical trials, pharmacovigilance and drug regulation in Latin America.
Sosa-Macías Martha et al. Pharmacogenomics 2016 Oct - Pharmacogenomics education and research at the Department of Pharmacy, University of Patras, Greece.
Patrinos George P et al. Pharmacogenomics 2016 Oct - Economic Evaluation of a Pharmacogenomics Test for Statin-Induced Myopathy in Cardiovascular High-Risk Patients Initiating a Statin.
Mitchell Dominic et al. Molecular diagnosis & therapy 2016 Oct
News/Reviews/Commentaries
- Misdiagnoses: A hidden risk of genetic testing,
by Jacqueline Howard, CNN, October 31, 2016
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.
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