Publication Date: Sep 7, 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. View Data Selection Criteria
Human Genomics across the Lifespan
Birth Defects and Child Health
- Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies.
Shang Xuan et al. EBioMedicine 2017 Aug - Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder.
Krupp Deidre R et al. American journal of human genetics 2017 Aug - Six Genes Linked With Preterm Births
M Fox, NBC News, Sep 6, 2017 - Vision Screening in Children Aged 6 Months to 5 Years Evidence Report and Systematic Review for the US Preventive Services Task Force
DE Jonas, et al, JAMA, Sep 5, 2017 - Overview of the Genetic Basis and Epigenetic Mechanisms that Contribute to FASD Pathobiology.
Liyanage Vichithra R B et al. Current topics in medicinal chemistry 2017 17(7) 808-828 - The significance of genetics in pathophysiologic models of premature birth.
Uberos Jose et al. Minerva pediatrica 2017 May - Vision Screening in Children Aged 6 Months to 5 Years US Preventive Services Task Force Recommendation Statement
USPSTF, JAMA, Sep 5, 2017
Cancer
- FDA Approves First CAR-T Cell Therapy for Pediatric Acute Lymphoblastic Leukemia
NIH Director's blog, September, 2p017 - CAR T Cells: Engineering Patients' Immune Cells to Treat Their Cancers
August 31, 2017 - Relevance of Spatial Heterogeneity of Immune Infiltration for Predicting Risk of Recurrence After Endocrine Therapy of ER+ Breast Cancer.
Heindl Andreas et al. Journal of the National Cancer Institute 2018 Feb 110(2) - Comprehensive genomic profiling in routine clinical practice leads to a low rate of benefit from genotype-directed therapy.
Hilal Talal et al. BMC cancer 2017 Aug 17(1) 602 - Interim analysis of survival in a prospective, multi-center registry cohort of cutaneous melanoma tested with a prognostic 31-gene expression profile test.
Hsueh Eddy C et al. Journal of hematology & oncology 2017 Aug 10(1) 152 - Ownership of uncertainty: healthcare professionals counseling and treating women from hereditary breast and ovarian cancer families who receive an inconclusive BRCA1/2 genetic test result.
Kenen Regina et al. Genetic testing and molecular biomarkers 2011 Apr 15(4) 243-50 - Implementation of Surgeon-Initiated Gene Expression Profile Testing (Onco type DX) Among Patients With Early-Stage Breast Cancer to Reduce Delays in Chemotherapy Initiation.
Losk Katya et al. Journal of oncology practice 2017 Aug JOP2017023788 - Next Generation Sequencing A Novel Approach to Distinguish Multifocal Primary Lung Adenocarcinomas from Intrapulmonary Metastases.
Patel Snehal B et al. The Journal of molecular diagnostics : JMD 2017 Aug - Genetic testing in women with breast cancer: implications for treatment.
Paterson Robin et al. Expert review of anticancer therapy 2017 Aug - Population-based genetic risk prediction and stratification for ovarian cancer: views from women at high risk.
Rahman Belinda et al. Familial cancer 2015 Mar 14(1) 135-44 - Advances in the molecular genetics of gliomas - implications for classification and therapy.
Reifenberger Guido et al. Nature reviews. Clinical oncology 2017 Jul 14(7) 434-452 - Moving In and Out of the What-Ifs: The Experiences of Unaffected Women Living in Families Where a Breast Cancer 1 or 2 Genetic Mutation Was Not Found.
Schroeder Dawn et al. Cancer nursing 2017 Aug - The BRCA1ness signature is associated significantly with response to PARP inhibitor treatment versus control in the I-SPY 2 randomized neoadjuvant setting.
Severson Tesa M et al. Breast cancer research : BCR 2017 Aug 19(1) 99 - Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome.
Sunga Annette Y et al. Cancer genetics 2017 Apr 212-2131-7 - Referral to cancer genetic counseling: do migrant status and patients' educational background matter?
van der Giessen J A M et al. Journal of community genetics 2017 Sep - IBM pitched its Watson supercomputer as a revolution in cancer care. It’s nowhere close
C Ross et al, Stat News, Sep 6, 2017 - Nature, Nurture, and Cancer Risks: Genetic and Nutritional Contributions to Cancer.
Theodoratou Evropi et al. Annual review of nutrition 2017 Aug 37293-320 - Economic Considerations in the Use of Novel Targeted Therapies for Lung Cancer: Review of Current Literature.
Albaba Hamzeh et al. PharmacoEconomics 2017 Aug - The Hunt Continues for Early Ovarian Cancer Clues.
Kuehn Bridget M et al. JAMA 2017 Jul 318(1) 14-16 - Crizotinib Shows Promise for Childhood Cancers
- Proposal for the creation of a national strategy for precision medicine in cancer: a position statement of SEOM, SEAP, and SEFH.
Garrido P et al. Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2017 Aug - The CDC's Role in the National Cancer Moonshot Initiative
L Richardson, Director, CDC Division of Cancer Control and Prevention - The Potential and Challenges of Expanded Germline Testing in Clinical Oncology
EM Van Allen, JAMA, September 5, 2017 - Next-Generation Sequencing and Detection of Minimal Residual Disease in Acute Myeloid Leukemia Ready for Clinical Practice?
F Pastore et al, JAMA, Sep 2017 - Cancer's Circulating Secrets
A Bardelli, the Pathologist, August 2017 - Risk reducing salpingectomy and delayed oophorectomy in high risk women: views of cancer geneticists, genetic counsellors and gynaecological oncologists in the UK.
Chandrasekaran Dhivya et al. Familial cancer 2015 Dec 14(4) 521-30 - Cancer patients' intentions towards receiving unsolicited genetic information obtained using next-generation sequencing.
Bijlsma Rhodé M et al. Familial cancer 2017 Aug - Genetic Ancestry Is not Associated with Breast Cancer Recurrence or Survival in U.S. Latina Women Enrolled in the Kaiser Permanente Pathways Study.
Engmann Natalie J et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2017 Sep 26(9) 1466-1469 - Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing
D Mandelker et al, JAMA, September 5, 2017
Chronic Disease
- 'Battling my biology': psychological effects of genetic testing for risk of weight gain.
Meisel S F et al. Journal of genetic counseling 2014 Apr 23(2) 179-86 - Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease.
Schormair B et al. Clinical genetics 2017 Sep - Is telomere length associated with the cognitive response to a lifestyle intervention?
Science Mag, August 30, 2017 - Identification of individuals by trait prediction using whole-genome sequencing data
C Lippert et al, PNAS, September 2017 - MODY in Ukraine: genes, clinical phenotypes and treatment.
Globa Evgenia et al. Journal of pediatric endocrinology & metabolism : JPEM 2017 Sep - September is World Alzheimer's Month
- Invited Commentary: Integrating Genomics and Social Epidemiology—Analysis of Late-Life Low Socioeconomic Status and the Conserved Transcriptional Response to Adversity
DW Belsky et al, Am J Epidemiol, September, 2017
Ethics/Policy/Law
- Precision medicine: a matter of regulation or collaboration?
Knoppers Bartha Maria et al. Journal of law and the biosciences 2016 Dec 3(3) 687-690 - Readability of informed consent forms for whole-exome and whole-genome sequencing.
Niemiec Emilia et al. Journal of community genetics 2017 Aug - Designing a standard of proof: the case for professional standards in next-generation sequencing laboratory-developed tests.
Walker Quinn et al. Journal of law and the biosciences 2017 Apr 4(1) 216-226 - Falling giants and the rise of gene editing: ethics, private interests and the public good.
Capps Benjamin et al. Human genomics 2017 Aug 11(1) 20
Practice
- Why CRISPR Gene Editing is So Precise
KQED Science, Sep 5, 2017 - Epidemiology as the scientific foundation for public health genomics
- Navigating the research-clinical interface in genomic medicine: analysis from the CSER Consortium
SM Wolfe et al, Genetics in Medicine, August 31, 2017 - Racial minority group interest in direct-to-consumer genetic testing: findings from the PGen study.
Landry Latrice et al. Journal of community genetics 2017 Sep - Interest in and reactions to genetic risk information: The role of implicit theories and self-affirmation.
Taber Jennifer M et al. Social science & medicine (1982) 2017 Aug 190101-110 - The social utility of clinical exome sequencing.
Timmermans Stefan et al. Patient education and counseling 2017 Aug - Comparing the ability of OPTION(12) and OPTION(5) to assess shared decision-making in genetic counselling.
Vortel Martina A et al. Patient education and counseling 2016 Oct 99(10) 1717-23 - Navigating the research-clinical interface in genomic medicine: analysis from the CSER Consortium.
Wolf Susan M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Aug - Assessment of the impact of shared data on the scientific literature
M Milham et al, BioRxIV, September 4, 2017 - Geography of Genetics and Genomics Research Funding in Africa.
Coles Eric et al. Global heart 2017 Jun 12(2) 173-176 - One Test May Spot Cancer, Infections, Diabetes and More-Researchers are starting to diagnose more ailments using DNA fragments found in the blood
K McGowan, Scientific American, September 5, 2017 - Impact of communicating personalized genetic risk information on perceived control over the risk: a systematic review.
Collins Ruth E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2011 Apr 13(4) 273-7 - PathOS: a decision support system for reporting high throughput sequencing of cancers in clinical diagnostic laboratories.
Doig Kenneth D et al. Genome medicine 2017 Apr 9(1) 38 - Information management: Data domination
G Donati et al, Nature, August 30, 2017 - Genomic sequencing identifies secondary findings in a cohort of parent study participants
ML Thompson et al, BioRxIV, September 1, 2017 - Why African Genomic Studies Can Solve the Continent's Health Issues
N Ngomi, sci tech connect, July 2017 - Beyond editing to writing large genomes
R Chari et al,Nat Rev Genetics, September 2017 - Reaching for the next branch on the biobank tree of knowledge
NJ Cox, Nature Genetics, August 30, 2017
Cardiovascular Diseases
- Impact of a Genetic Risk Score for Coronary Artery Disease on Reducing Cardiovascular Risk: A Pilot Randomized Controlled Study.
Knowles Joshua W et al. Frontiers in cardiovascular medicine 2017 453 - Can we afford not to screen for FH?
Stoekenbroek Robert M et al. European heart journal 2017 Jun 38(23) 1840-1842 - The Spectrum of Familial Hypercholesterolemia (FH) in Saudi Arabia: Prime Time for Patient FH Registry.
Alallaf Faisal et al. The open cardiovascular medicine journal 2017 1166-75 - FH and pregnancy
The FH Foundation blog, August 30, 2017
Newborn Screening
- Expanded newborn metabolic screening programme in Hong Kong: a three-year journey.
Chong S C et al. Hong Kong medical journal = Xianggang yi xue za zhi 2017 Sep
Pharmacogenomics
- Pharmacogenomic Variability of Oral Baclofen Clearance and Clinical Response in Children with Cerebral Palsy.
McLaughlin Matthew J et al. PM & R : the journal of injury, function, and rehabilitation 2017 Aug - Pharmacogenetics and precision medicine: Is inflammation a covert threat to effective genotype-based therapy?
Shah Rashmi R et al. Therapeutic advances in drug safety 2017 Sep 8(9) 267-272 - The impact of Fc gamma receptor IIa and IIIa gene polymorphisms on the therapeutic response of rituximab in Egyptian adult immune thrombocytopenic purpura.
Ellithy Hend N et al. Hematology (Amsterdam, Netherlands) 2017 Aug 1-6 - Updating the landscape of direct-to-consumer pharmacogenomic testing.
Filipski Kelly K et al. Pharmacogenomics and personalized medicine 2017 10229-232
Reproductive Health
- Effect of non-invasive prenatal testing as a contingent approach on the indications for invasive prenatal diagnosis and prenatal detection rate of Down's syndrome.
Kou K O et al. Hong Kong medical journal = Xianggang yi xue za zhi 2016 Jun 22(3) 223-30 - No. 261-Prenatal Screening for Fetal Aneuploidy in Singleton Pregnancies.
Chitayat David et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2017 Sep 39(9) e380-e394 - No. 348-Joint SOGC-CCMG Guideline: Update on Prenatal Screening for Fetal Aneuploidy, Fetal Anomalies, and Adverse Pregnancy Outcomes.
Audibert Francois et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2017 Sep 39(9) 805-817 - No. 262-Prenatal Screening for and Diagnosis of Aneuploidy in Twin Pregnancies.
Audibert François et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2017 Sep 39(9) e347-e361 - Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory.
Dheedene Annelies et al. Prenatal diagnosis 2016 Aug 36(8) 699-707
Funding
- Approaches to Identify and Care for Individuals with Inherited Cancer Syndromes (U01)
NCI Funding Announcement September 1, 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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