Publication Date: Jul 27, 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.
Human Genomics across the Lifespan
Birth Defects and Child Health
- Genetic Testing Protocol Reduces Costs and Increases Rate of Genetic Diagnosis in Infants with Congenital Heart Disease.
Geddes Gabrielle C et al. Pediatric cardiology 2017 Jul - Outcome after prenatal and postnatal diagnosis of complex congenital heart defects and the influence of genetic anomalies.
De Groote Katya et al. Prenatal diagnosis 2017 Jul - A New Targeted CFTR Mutation Panel Based on Next-Generation Sequencing Technology.
Lucarelli Marco et al. The Journal of molecular diagnostics : JMD 2017 Jul - Recommendations for the inclusion of Fabry disease as a rare febrile condition in existing algorithms for fever of unknown origin.
Manna Raffaele et al. Internal and emergency medicine 2017 Jul - A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients.
Pilonetto Daniela V et al. Molecular genetics & genomic medicine 2017 Jul 5(4) 360-372 - FDA Approves First Ever US Gene Therapy
M Humphrey, Frontline Genomics, July 21, 2017
Cancer
- Why I Asked My Mom to Undergo Genetic Testing After Her Ovarian Cancer Diagnosis
L Rezende, FORCE blog post, July 25, 2017 - Identifying Health Information Technology Needs of Oncologists to Facilitate the Adoption of Genomic Medicine: Recommendations From the 2016 American Society of Clinical Oncology Omics and Precision Oncology Workshop.
Hughes Kevin S et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2017 Jul JCO2017741744 - Applied Cancer Immunogenomics: Leveraging Neoantigen Discovery in Glioblastoma.
Johanns Tanner M et al. Cancer journal (Sudbury, Mass.) 23(2) 125-130 - Longitudinal analysis of treatment-induced genomic alterations in gliomas.
Erson-Omay E Zeynep et al. Genome medicine 2017 Feb 9(1) 12 - Genetic Predisposition to Breast Cancer Due to Mutations Other Than BRCA1 and BRCA2 Founder Alleles Among Ashkenazi Jewish Women.
Walsh Tom et al. JAMA oncology 2017 Jul - Systematic genetic screening in a prospective group of Danish patients with pheochromocytoma.
Hansen Morten Steen Svarer et al. Research and reports in urology 2017 9113-119 - Inclusion of a genetic risk score into a validated risk prediction model for colorectal cancer in Japanese men improves performance.
Iwasaki Motoki et al. Cancer prevention research (Philadelphia, Pa.) 2017 Jul - Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR).
Lebo Matthew S et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jul - Targeted next-generation sequencing using a multigene panel in myeloid neoplasms: Implementation in clinical diagnostics.
Maes B et al. International journal of laboratory hematology 2017 Jul - Is new American Thyroid Association risk classification for hereditary medullary thyroid carcinoma applicable to Chinese patients? A single-center study.
Zhang Xiwei et al. Chinese journal of cancer research = Chung-kuo yen cheng yen chiu 2017 Jun 29(3) 223-230 - CYP2D6 genotype is not associated with survival in breast cancer patients treated with tamoxifen: results from a population-based study.
Hertz D L et al. Breast cancer research and treatment 2017 Jul - BCL2 mutations do not confer adverse prognosis in follicular lymphoma patients treated with rituximab.
Huet Sarah et al. American journal of hematology 2017 Jun 92(6) 515-519 - A systematic review of women's satisfaction and regret following risk-reducing mastectomy.
Braude Lucy et al. Patient education and counseling 2017 Jul - MOlecular Screening for CAncer Treatment Optimization (MOSCATO-01) in pediatric patients: A single institutional prospective molecular stratification trial.
Harttrampf Anne Catherine et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Jul - Targeting breast cancer outcomes-what about the primary relatives?
Johnston Alison et al. Molecular genetics & genomic medicine 2017 Jul 5(4) 317-322 - Counterpoint: Successes in the Pursuit of Precision Medicine: Biomarkers Take Credit
S Kato et al, JCCN, 2017 - The risk of colorectal neoplasia can be different according to the types of family members affected by colorectal cancer.
Kim Nam Hee et al. Journal of gastroenterology and hepatology 2017 Jul - [Effect of 21-gene recurrence score on chemotherapy decisions for patients with estrogen receptor-positive, epidermal growth factor receptor 2-negative and lymph node-negative early stage-breast cancer].
Mao Y et al. Zhonghua zhong liu za zhi [Chinese journal of oncology] 2017 Jul 39(7) 502-508 - Primary liver cancer genome sequencing: translational implications and challenges.
Ziogas Demosthenes E et al. Expert review of gastroenterology & hepatology 2017 Jul - Genetic Counselling, BRCA1/2 Status and Clinico-pathologic Characteristics of Patients with Ovarian Cancer before 50 Years of Age.
Cvelbar Mirjam et al. Radiology and oncology 2017 Jun 51(2) 187-194 - Genome analysis helps keep deadly brain cancer at bay for five years
Science Daily, 2017 - Prevalence of germ-line mutations in cancer genes among pancreatic cancer patients with a positive family history.
Chaffee Kari G et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jul - Impact of a 21-Gene Recurrence Score Test on the Choice of Adjuvant Chemotherapy for Hormone Receptor-positive Early-stage Breast Cancer: A Prospective Study.
Zeng Yinduo et al. Anticancer research 2017 Aug 37(8) 4539-4547 - Evaluation of a new genetic family history screening questionnaire for identifying Lynch syndrome.
Harrison Dawn S et al. The Nurse practitioner 2017 Aug 42(8) 48-51 - Post-mortem testing; germline BRCA1/2 variant detection using archival FFPE non-tumor tissue. A new paradigm in genetic counseling.
Petersen Annabeth Høgh et al. European journal of human genetics : EJHG 2016 Aug 24(8) 1104-11 - Examination of the Patient-Focused Impact of Cancer Telegenetics Among a Rural Population: Comparison with Traditional In-Person Services.
Solomons Nan M et al. Telemedicine journal and e-health : the official journal of the American Telemedicine Association 2017 Jul - Psychosocial and behavioral impact of breast cancer risk assessed by testing for common risk variants: protocol of a prospective study.
Yanes Tatiane et al. BMC cancer 2017 Jul 17(1) 491 - Cost-effectiveness of precision medicine in gastrointestinal stromal tumor and gastric adenocarcinoma.
Zeichner Simon B et al. Journal of gastrointestinal oncology 2017 Jun 8(3) 513-523 - A Rush to Develop ‘Utterly Transformative’ Gene Therapies Against Cancer
D Grady, New York Times, July 23, 2017 - I wish we'd known sooner about BRCA gene mutations
BC Selling, blog post, Ovarian Cancer UK, 2017 - Point: The Imprecise Pursuit of Precision Medicine: Are Biomarkers to Blame
B Gyawali, JCCN, 2017 - Study sheds light on the 'other' breast cancer genes
J Howard, CNN, July 21, 2017
Chronic Disease
- A randomized controlled trial of disclosing genetic risk information for Alzheimer disease via telephone.
Christensen Kurt D et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jul - Polygenic Risk Score Analysis of Pathologically Confirmed Alzheimer's Disease.
Escott-Price Valentina et al. Annals of neurology 2017 Jul - Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort.
Garton Fleur C et al. Molecular genetics & genomic medicine 2017 Jul 5(4) 418-428 - Receptiveness to participation in genetic research: A pilot study comparing views of people with depression, diabetes, or no illness.
Roberts Laura Weiss et al. Journal of psychiatric research 2017 Jul 94156-162 - Strategic roadmap for an early diagnosis of Alzheimer's disease based on biomarkers.
Frisoni Giovanni B et al. The Lancet. Neurology 2017 Aug 16(8) 661-676
Ethics/Policy/Law
- Genes, cells, and biobanks: Yes, there's still a consent problem.
Caulfield Timothy et al. PLoS biology 2017 Jul 15(7) e2002654 - Regulating the advertising of genetic tests in Europe: a balancing act.
Kalokairinou Louiza et al. Journal of medical genetics 2017 Jul - A Culture of Understanding: Reflections and Suggestions from a Genomics Research Community Board.
Kaplan Benjamin et al. Progress in community health partnerships : research, education, and action 2017 11(2) 161-165
Practice
- Building the biomedical data science workforce.
Dunn Michelle C et al. PLoS biology 2017 Jul 15(7) e2003082 - Commentary for Special Issue of Prevention Science "Using Genetics in Prevention: Science Fiction or Science Fact?"
Dick Danielle M et al. Prevention science : the official journal of the Society for Prevention Research 2017 Jul - Genomic diagnostics within a medically underserved population: efficacy and implications.
Strauss Kevin A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jul - Mosaicism: Implications for Genetic Counseling and Medical Management.
Waldman Laura et al. Clinical journal of oncology nursing 2017 Aug 21(4) 428-432 - Genome-wide genetic data on ~500,000 UK Biobank participants
C Bycroft et al. BioRxiV, July 20, 2017 - What I learned from home DNA testing
B. Ellen, The Guardian, July 23, 2017 - Biobanking-Budgets and the Role of Pathology Biobanks in Precision Medicine.
Andry Chris et al. Academic pathology 42374289517702924
Cardiovascular Diseases
- Cascade Screening for Familial Hypercholesterolemia and the Use of Genetic Testing.
Knowles Joshua W et al. JAMA 2017 Jul 318(4) 381-382 - Influence of family history on the willingness of outpatients to undergo genetic testing for salt-sensitive hypertension: a cross-sectional study.
Takeshima Taro et al. BMJ open 2017 Jul 7(7) e016322 - Cascade Screening for Familial Hypercholesterolemia in the United States: Public Health Impact and Challenges
JW Knowles et al, CDC Blog, July 25, 2017 - Cascade Screening for Familial Hypercholesterolemia and the Use of Genetic Testing.
Knowles Joshua W et al. JAMA 2017 Jul 318(4) 381-382 - How Studying Familial Hypercholesterolemia Resulted in the Discovery of Statins as an Effective Treatment for High Cholesterol
JAMA Podcast, July 25, 2017 - Treatment of Cholesterol in 2017
HM Krumholz, JAMA, July 2017 - Inconsistent Guideline Recommendations for Cardiovascular Prevention and the Debate About Zeroing in on and Zeroing LDL-C Levels With PCSK9 Inhibitors
JP Ioannidis, JAMA, July 2017
Newborn Screening
- Newborn screening: a review of history, recent advancements, and future perspectives in the era of next generation sequencing.
Almannai Mohammed et al. Current opinion in pediatrics 2016 Dec 28(6) 694-699 - Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil.
Bravo Heydy et al. Molecular genetics and metabolism reports 2017 Sep 1292-97 - Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience.
Burton Barbara K et al. The Journal of pediatrics 2017 Jul - Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional Programs.
Schielen Peter C J I et al. International journal of neonatal screening 2017 Jun 3(2) - Development of newborn screening connect (NBS connect): a self-reported patient registry and its role in improvement of care for patients with inherited metabolic disorders.
Osara Yetsa et al. Orphanet journal of rare diseases 2017 Jul 12(1) 132
Pharmacogenomics
- Is pharmacogenetic-guided treatment cost-effective? No one size fits all!
S Grosse et al, CDC Blog Post, July 24, 2017 - Impact of CYP2D6 genotype on amitriptyline efficacy for the treatment of diabetic peripheral neuropathy: a pilot study.
Chaudhry Mamoonah et al. Pharmacogenomics 2017 Apr 18(5) 433-443
Reproductive Health
- Impact of Preimplantation Genetic Screening on Donor oocyte-recipient cycles in the United States.
Barad David H et al. American journal of obstetrics and gynecology 2017 Jul - Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American College of Medical Genetics and Genomics (ACMG).
Cherry Athena M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jul - First Human Embryos Edited in U.S. Researchers have demonstrated they can efficiently improve the DNA of human embryos.
S Connor, Technology Review, July 27, 2017
Funding
- Implementing Genomics in Practice (IGNITE) II: Pragmatic Clinical Trials –Enhanced Diversity Clinical Groups (U01)
NHGRI Funding Announcement, July 26, 2017 - Implementing Genomics in Practice (IGNITE) II: Pragmatic Clinical Trials –Coordinating Center (U01)
NHGRI Funding Announcement, July 26, 2017 - Division of Genomic Medicine- Notices & Funding Opportunities-IGNITE 2.0
NHGRI, July 25, 2017 - The All of Us Research Program announces first community partner awards
NIH news release, July 25, 2017 - Implementing Genomics in Practice (IGNITE) II: Pragmatic Clinical Trials – Clinical Groups (U01)
NHGRI Funding Announcement July 26, 2017
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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