Published on 08/31/2017
Human Genomics across the Lifespan
Birth Defects and Child Health
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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 -
A comparison of two approaches to education about carrier testing for cystic fibrosis.
Leonard K P et al. Journal of genetic counseling 1995 Jun 4(2) 97-113 -
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
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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 -
Family history in ovarian cancer referral population.
Berg L A et al. Journal of genetic counseling 1996 Mar 5(1) 27-38 -
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 -
Assessment of HER2 status in patients with gastroesophageal adenocarcinoma treated with epirubicin-based chemotherapy: heterogeneity-related issues and prognostic implications.
Personeni Nicola et al. Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association 2017 May 20(3) 428-437 -
Precision oncology: origins, optimism, and potential.
Prasad Vinay et al. The Lancet. Oncology 2016 Feb 17(2) e81-e86 -
Counseling families with hereditary breast and ovarian cancer: A psychosocial perspective.
Richards M P et al. Journal of genetic counseling 1995 Sep 4(3) 219-33 -
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
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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 Parkinsons 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
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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
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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.
Torkamani Ali, et al. Cell 2017 8 0. (5) 828-843 -
NIHs 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 -
Genomic medicine 2025: France in the race for precision medicine.
Lévy Yves et al. Lancet (London, England) 2016 388(10062) 2872
Heart, Lung, Blood and Sleep Diseases
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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
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A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening.
Sinclair Graham B et al. Molecular genetics and metabolism 2016 Jul 118(3) 173-7 -
CDC Grand Rounds: Newborn Screening for Hearing Loss and Critical Congenital Heart Disease.
Grosse Scott D, et al. MMWR. Morbidity and mortality weekly report 2017 8 0. (33) 888-890
Pharmacogenomics
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Updating the landscape of direct-to-consumer pharmacogenomic testing.
Filipski Kelly K, et al. Pharmacogenomics and personalized medicine 2017 0 0. 229-232 -
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
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A survey of reimbursement for cystic fibrosis carrier testing.
Bernhardt B A et al. Journal of genetic counseling 1993 Jun 2(2) 69-76 -
Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increased risk of feto-placental disease.
Pertile Mark D, et al. Science translational medicine 2017 8 0. (405) -
Comprehensive Maturity Onset Diabetes of the Young (MODY) Gene Screening in Pregnant Women with Diabetes in India.
Doddabelavangala Mruthyunjaya Mahesh et al. PloS one 2017 12(1) e0168656 -
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