Publication Date: Aug 31, 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
- Implications of the FMR1 Premutation for Children, Adolescents, Adults, and Their Families.
Wheeler Anne et al. Pediatrics 2017 Jun 139(Suppl 3) S172-S182 - Genetic testing in intellectual disability psychiatry: Opinions and practices of UK child and intellectual disability psychiatrists.
Wolfe Kate et al. Journal of applied research in intellectual disabilities : JARID 2017 Aug - Diagnostic genetic testing for patients with bilateral optic neuropathy and comparison of clinical features according to OPA1 mutation status.
Gaier Eric D et al. Molecular vision 2017 23548-560 - Genetic Severity Score predicts clinical phenotype in NF2.
Halliday Dorothy et al. Journal of medical genetics 2017 Aug - Altered mitochondria associated with increased autism risk
Science Mag, August 23, 2017 - Predictive Value of GJB2 Mutation Status for Hearing Outcomes of Pediatric Cochlear Implantation.
Abdurehim Yasin et al. Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2017 Jul 157(1) 16-24 - A Genotype-First Approach for Clinical and Genetic Evaluation of Wolcott-Rallison Syndrome in a Large Cohort of Iranian Patients with Neonatal Diabetes.
Abbasi Farzaneh et al. Canadian journal of diabetes 2017 Aug - High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders
Stosser Mary Beth et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Aug - The pressing need for point-of-care diagnostics for sickle cell disease: A review of current and future technologies.
McGann Patrick T et al. Blood cells, molecules & diseases 2017 Aug - Outcome of Cochlear Implantation in Prelingually Deafened Children According to Molecular Genetic Etiology.
Park Joo Hyun et al. Ear and hearing 38(5) e316-e324 - Public Health Literature Review of Fragile X Syndrome.
Raspa Melissa et al. Pediatrics 2017 Jun 139(Suppl 3) S153-S171
Cancer
- Detecting early signs of cancer in the blood
NIH Research matters, August 29, 2017 - Physician Experiences and Understanding of Genomic Sequencing in Oncology.
Weipert Caroline M et al. Journal of genetic counseling 2017 Aug - MammaPrint versus EndoPredict: Poor correlation in disease recurrence risk classification of hormone receptor positive breast cancer.
Bösl Andreas et al. PloS one 2017 12(8) e0183458 - Genomic Classifier Augments the Role of Pathological Features in Identifying Optimal Candidates for Adjuvant Radiation Therapy in Patients With Prostate Cancer: Development and Internal Validation of a Multivariable Prognostic Model.
Dalela Deepansh et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2017 Jun 35(18) 1982-1990 - Validation of Immunohistochemical Assays for Integral Biomarkers in the NCI-MATCH EAY131 Clinical Trial.
Khoury Joseph D et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Aug - Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores.
Lecarpentier Julie et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2017 Jul 35(20) 2240-2250 - Cancer Genomics and Public Health.
Malats Núria et al. Public health genomics 2017 Aug - Clinical utility of circulating cell-free DNA in advanced colorectal cancer.
Pereira Allan A Lima et al. PloS one 2017 12(8) e0183949 - Moving Into a New Era in Colorectal Cancer,
by Angelica Welch, Cure Today, August 25, 2017 - F.D.A. Approves First Gene-Altering Leukemia Treatment, Costing $475,000
D Grady, NY Times, August 30, 2017 - Gefitinib and EGFR Gene Copy Number Aberrations in Esophageal Cancer.
Petty Russell D et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2017 Jul 35(20) 2279-2287 - FDA Approves First Gene Therapy Treatment For Cancer
R Stein, NPR, August 30, 2017 - Addressing Gaps in Delivery of Genetic Test Results
Clinical Oncology, August 23, 2017 - Committee Opinion No. 716: The Role of the Obstetrician-Gynecologist in the Early Detection of Epithelial Ovarian Cancer in Women at Average Risk.
et al. Obstetrics and gynecology 2017 130(3) e146-e149 - Committee Opinion No. 716 Summary: The Role of the Obstetrician-Gynecologist in the Early Detection of Epithelial Ovarian Cancer in Women at Average Risk.
et al. Obstetrics and gynecology 2017 Sep 130(3) 664-665 - Practice Bulletin No. 182 Summary: Hereditary Breast and Ovarian Cancer Syndrome.
et al. Obstetrics and gynecology 2017 Sep 130(3) 657-659 - Clinical characteristics of Lynch-like cases collaterally classified by Lynch syndrome identification strategy using universal screening in endometrial cancer.
Takahashi Kazue et al. Gynecologic oncology 2017 Aug - Cancer Genomic Resources and Present Needs in the Latin American Region.
Torres Ángela et al. Public health genomics 2017 Aug - EGFR gene status predicts response and survival benefit in a preclinical gastric cancer trial treating patient‑derived xenografts with cetuximab.
Wang Xiaohong et al. Oncology reports 2017 Aug - Direct detection of early-stage cancers using circulating tumor DNA.
Phallen Jillian et al. Science translational medicine 2017 Aug 9(403) - Practice Bulletin No 182: Hereditary Breast and Ovarian Cancer Syndrome.
et al. Obstetrics and gynecology 2017 130(3) e110-e126 - Providing guidance for genomics-based cancer treatment decisions: insights from stakeholder engagement for post-prostatectomy radiation therapy.
Abe James et al. BMC medical informatics and decision making 2017 Aug 17(1) 128 - A consensus on liquid biopsy from the 2016 Chinese Lung Cancer Summit expert panel.
Wu Yi-Long et al. ESMO open 2017 2(Suppl 1) e000174 - Precision Diagnosis and Treatment for Advanced Non-Small-Cell Lung Cancer.
Reck Martin et al. The New England journal of medicine 2017 Aug 377(9) 849-861 - New UCSF Program Aims to Advance Equity in Genomic Medicine in the Bay Area
UCSF News, N Weiler, August 29, 2017 - UK colorectal cancer patients are inadequately assessed for Lynch syndrome.
Adelson Maria et al. Frontline gastroenterology 2014 Jan 5(1) 31-35 - Best practices for multidisciplinary integration of a DCIS genomic assay into clinical practice.
Alvarado Michael et al. Journal of surgical oncology 2017 Aug - Impact of therapy on genomics and transcriptomics in high-risk prostate cancer treated with neoadjuvant docetaxel and androgen deprivation therapy.
Beltran Himisha et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Aug - Assessment of the prognostic role of a 94-single nucleotide polymorphisms risk score in early breast cancer in the SIGNAL/PHARE prospective cohort: no correlation with clinico-pathological characteristics and outcomes.
Curtit Elsa et al. Breast cancer research : BCR 2017 Aug 19(1) 98 - Circulating Tumor DNA: Measurement and Clinical Utility.
Donaldson Joshua et al. Annual review of medicine 2017 Aug - Breast Cancer Genetics for Plastic Surgeons.
McInerney Niall M et al. Plastic and reconstructive surgery 2017 Sep 140(3) 455-460 - Clinical Overestimation of HER2 Positivity in Early Estrogen and Progesterone Receptor-Positive Breast Cancer and the Value of Molecular Subtyping Using BluePrint.
Myburgh Ettienne J et al. Journal of global oncology 2017 Aug 3(4) 314-322 - A prospective evaluation of clinical and genetic predictors of weight changes in breast cancer survivors.
Sadim Maureen et al. Cancer 2017 Jul 123(13) 2413-2421 - Impact of gene-expression profiling in patients with early breast cancer when applied outside the guideline directed indication area.
Schreuder K et al. European journal of cancer (Oxford, England : 1990) 2017 Aug 84270-277 - Uptake of genetic testing by the children of Lynch syndrome variant carriers across three generations.
Seppälä Toni T et al. European journal of human genetics : EJHG 2017 Aug
Chronic Disease
- Warnings over shock dementia revelations from ancestry DNA tests
R McKie, The Guardian, August 2017 - Genetics of Parkinson's Disease: Genotype-Phenotype Correlations.
Koros Christos et al. International review of neurobiology 2017 132197-231 - Genetic Forms of Parkinson's Disease.
Kim Christine Y et al. Seminars in neurology 2017 Apr 37(2) 135-146 - The gut microbiota and Parkinson’s disease – what we know so far
J Bedarf et al, BiomedCentral Blog, August 2017 - Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders.
Mallett Andrew J et al. Kidney international 2017 Aug - Incremental cost-effectiveness of algorithm-driven genetic testing versus no testing for Maturity Onset Diabetes of the Young (MODY) in Singapore.
Nguyen Hai Van et al. Journal of medical genetics 2017 Aug
Ethics/Policy/Law
- Third party interpretation of raw genetic data: an ethical exploration.
Badalato Lauren et al. European journal of human genetics : EJHG 2017 Aug - Oversight of Genomic Data Sharing: What Roles for Ethics and Data Access Committees?
Shabani Mahsa et al. Biopreservation and biobanking 2017 Aug
Practice
- With a Simple DNA Test, Family Histories Are Rewritten
G Kolata, NY Times, August 2017 - Diversity and inclusion in genomic research: why the uneven progress?
Bentley Amy R et al. Journal of community genetics 2017 Jul - ArrayTrack: An FDA and Public Genomic Tool.
Fang Hong et al. Methods in molecular biology (Clifton, N.J.) 2017 1613333-353 - High-Definition Medicine
A Torkamani et al, Cell, August 2017 - NIH’s All of Us Research Program expands national network of medical centers
NIH, August 29, 2017 - An experiment assessing effects of personalized feedback about genetic susceptibility to obesity on attitudes towards diet and exercise.
Ahn Woo-Kyoung et al. Appetite 2017 Aug 12023-31 - Precision medicine, are we there yet?
E Ashley, Precision FDA Blog Post, August 2017 - Integrated Genomic Medicine: A Paradigm for Rare Diseases and Beyond.
Schork N J et al. Advances in genetics 2017 9781-113 - Experiences of Genetic Counselors Practicing in Rural Areas.
Emmet Margaret et al. Journal of genetic counseling 2017 Aug
Cardiovascular Diseases
- Mendelian randomization in cardiometabolic disease: challenges in evaluating causality.
Holmes Michael V et al. Nature reviews. Cardiology 2017 Jun - How low should LDL cholesterol go?
Science Mag, August 28, 2017 - CardioClassifier: demonstrating the power of disease- and gene-specific computational decision support for clinical genome interpretation
N Whiffin et al, BioRxiV preprints, August 2017 - Genetic Studies Help Clarify the Complexities of Lipid Biology and Treatment
Sniderman Allan D et al. JAMA 2017 Aug - Association of Genetic Variants Related to CETP Inhibitors and Statins With Lipoprotein Levels and Cardiovascular Risk.
Ference Brian A et al. JAMA 2017 Aug
Newborn Screening
- CDC Grand Rounds: Newborn Screening for Hearing Loss and Critical Congenital Heart Disease
MMWR Weekly / August 25, 2017 / 66(33);888?890
Pharmacogenomics
- Updating the landscape of direct-to-consumer pharmacogenomic testing
Filipski, KK, et al. Pharmacogenomics and Personalized Medicine Vol 10 pg. 229-232 2017 Aug 22 - Impact of CYP1A1, GSTP1 and XRCC1 genes polymorphisms on toxicity and response to chemotherapy in childhood acute lymphoblastic leukemia.
Abo-Bakr Asmaa et al. Journal of the Egyptian National Cancer Institute 2017 Aug
Reproductive Health
- Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increased risk of feto-placental disease
MD Pertile et al, Sci Trans Med, August 30, 2017 - Sequencing all 24 human chromosomes uncovers rare disorders - Study from NIH and other institutions may help improve prenatal genetic screening
NIH, August 30, 2017 - Rewriting the genome in human embryos
LC Byrne, Sci Trans Med, Aug 30, 2017 - Targeted capture enrichment assay for non-invasive prenatal testing of large and small size sub-chromosomal deletions and duplications.
Neofytou Maria C et al. PloS one 2017 12(2) e0171319 - Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping.
Vermeulen Carlo et al. American journal of human genetics 2017 Aug
Genomics & Health Impact Scan Database|Weekly Scan|PHGKB
No hay comentarios:
Publicar un comentario