Published on 08/03/2015
Human Genomics across the Lifespan
Birth Defects and Child Health
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Comorbidity of intellectual disability confounds ascertainment of autism: Implications for genetic diagnosis.
Polyak Andrew et al. Am. J. Med. Genet. B Neuropsychiatr. Genet. 2015 Jul 22. -
Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.
Tawil Rabi et al. Neurology 2015 Jul 28. 85(4) 357-64
Cancer
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PanGen-Fam: Spanish registry of hereditary pancreatic cancer.
Mocci E et al. Eur. J. Cancer 2015 Jul 23. -
Implementation of a Molecular Tumor Board: The Impact on Treatment Decisions for 35 Patients Evaluated at Dartmouth-Hitchcock Medical Center.
Tafe Laura J et al. Oncologist 2015 Jul 23. -
Predictors of Self-Reported Family Health History of Breast Cancer.
Ricks-Santi Luisel J et al. J Immigr Minor Health 2015 Jul 23. -
Screening for Lynch syndrome and referral to clinical genetics by selective mismatch repair protein immunohistochemistry testing: an audit and cost analysis.
Colling Richard et al. J. Clin. Pathol. 2015 Jul 22. -
DNA Mismatch Repair Status Predicts Need for Future Colorectal Surgery for Metachronous Neoplasms in Young Individuals Undergoing Colorectal Cancer Resection.
Aronson Melyssa et al. Dis. Colon Rectum 2015 Jul 58(7) 645-52 -
The risk factors of toxicity during chemotherapy and radiotherapy in breast cancer patients according to the presence of BRCA gene mutation.
Huszno Joanna et al. Contemp Oncol (Pozn) 2015 19(1) 72-6 -
The genetics of inherited predispositions to colorectal polyps: a quick guide for clinicians.
Ricci M T et al. Colorectal Dis 2015 Jan 17 Suppl 13-9 -
Racial variation in adjuvant chemotherapy initiation among breast cancer patients receiving oncotype DX testing.
Roberts Megan C et al. Breast Cancer Res. Treat. 2015 Jul 28. -
Contemporary Challenges in Genetic Testing for Breast Cancer: A Collaboration Opportunity for Genetic Counselors and Breast Surgeons.
Larsen Haidle Joy et al. Ann. Surg. Oncol. 2015 Jul 28. -
Negative Genetic Testing Does Not Deter Contralateral Prophylactic Mastectomy in Younger Patients with Greater Family Histories of Breast Cancer.
Wang Frederick et al. Ann. Surg. Oncol. 2015 Jul 28. -
Establishing a clinical and molecular diagnosis for hereditary colorectal cancer syndromes: Present tense, future perfect?
Jansen Marnix et al. Gastrointest. Endosc. 2014 Dec 80(6) 1145-55 -
Next-generation sequencing to guide cancer therapy.
Gagan Jeffrey et al. Genome Med 2015 7(1) 80 -
Diagnostic Performance of Whole-Body MRI as a Tool for Cancer Screening in Children With Genetic Cancer-Predisposing Conditions.
Anupindi Sudha A et al. AJR Am J Roentgenol 2015 Aug 205(2) 400-8 -
Using genomics in complex diseases: do health professionals need new skills?
By Dr Susmita Chowdhury, PHG Foundation, Jul 24 -
The Evolving Landscape of HER2 Targeting in Breast Cancer.
Moasser Mark M et al. JAMA Oncol 2015 Jul 23. -
Treatment Decision Making and Genetic Testing for Breast Cancer: Mainstreaming Mutations.
Katz Steven J et al. JAMA 2015 Jul 23. -
Screening for Lynch syndrome among patients with newly diagnosed endometrial cancer: a comprehensive review.
Aguirre Elena et al. Tumori 2015 Jul 15. 0(0) 0
Chronic Disease
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The Irish Kidney Gene Project - Prevalence of Family History in Patients with Kidney Disease in Ireland.
Connaughton Dervla M et al. Nephron 2015 Jul 18. -
Liver transplantation as a definitive treatment for familial hypercholesterolemia: A series of 36 cases.
Mansoorian Mohsenreza et al. Pediatr Transplant 2015 Sep 19(6) 605-11 -
Future translational applications from the contemporary genomics era: a scientific statement from the American Heart Association.
Fox Caroline S et al. Circulation 2015 May 12. 131(19) 1715-36 -
Prevalence of Fabry disease in dialysis patients: Japan Fabry disease screening study (J-FAST).
Saito Osamu et al. Clin. Exp. Nephrol. 2015 Jul 22.
Ethics/Policy/Law
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Can adolescents make predictive genetic testing decisions?: Study suggests children age 12 and older may be competent to give consent.
Am. J. Med. Genet. A 2015 Aug 167(8) viii -
Feasibility of an Assessment Tool for Children's Competence to Consent to Predictive Genetic Testing: a Pilot Study.
Hein Irma M et al. J Genet Couns 2015 Apr 26.
Practice
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GeneCOST: a novel scoring-based prioritization framework for identifying disease causing genes.
Ozer Bugra et al. Bioinformatics 2015 Jul 21. -
Framework for the Integration of Genomics, Epigenomics and Transcriptomics in Complex Diseases.
Pineda Silvia et al. Hum. Hered. 2015 79(3-4) 124-36 -
GeneVetter: a web tool for quantitative monogenic assessment of rare diseases.
Gillies Christopher E et al. Bioinformatics 2015 Jul 23. -
SMART on FHIR Genomics: Facilitating standardized clinico-genomic apps.
Alterovitz Gil et al. J Am Med Inform Assoc 2015 Jul 21. -
Defining Our Clinical Practice: The Identification of Genetic Counseling Outcomes Utilizing the Reciprocal Engagement Model.
Redlinger-Grosse Krista et al. J Genet Couns 2015 Jul 25. -
Scope of practice: a statement of the American College of Medical Genetics and Genomics (ACMG).
Genet. Med. 2015 Jul 23.
Pharmacogenomics
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International warfarin genotype-guided dosing algorithms in the Turkish population and their preventive effects on major and life-threatening hemorrhagic events.
Karaca Sefayet et al. Pharmacogenomics 2015 Jul 28. 1-10
Reproductive Health
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Use of the Combined First-Trimester Screen in High- and Low-Risk Patient Populations After Introduction of Noninvasive Prenatal Testing.
Larion Sebastian et al. J Ultrasound Med 2015 Aug 34(8) 1423-8 -
Prenatal Screening of 21 Microdeletion/Microduplication Syndromes and Subtelomeric Imbalances by MLPA in Fetuses with Increased Nuchal Translucency and Normal Karyotype.
Gouas Laetitia et al. Cytogenet. Genome Res. 2015 Jul 21. -
The promise of non-invasive prenatal testing needs to be monitored scientifically.
Lonardo Fortunato et al. BMJ 2015 350h2518 -
Advantages and Disadvantages of Different Implementation Strategies of Non-Invasive Prenatal Testing in Down Syndrome Screening Programmes.
Mersy Elke et al. Public Health Genomics 2015 Jul 18. -
Global genetic carrier testing: a vision for the future.
Beaudet Arthur L et al. Genome Med 2015 7(1) 79
Tools/Databases
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Genome Modeling System: A Knowledge Management Platform for Genomics.
Griffith Malachi et al. PLoS Comput. Biol. 2015 Jul 11(7) e1004274
News/ Reviews/Comments
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Marshaling the Variome.
Nature genetics 2015 8 0. (8) 849.Nature genetics 2015 8 0. (8) 849 -
Before that genomics revolution, we need interoperability, patient engagement and privacy,
by Meghana Keshavan, MedCity News, Jul 27 -
New drug sharply lowers cholesterol, but it's costly,
by Andrew Pollack, New York Times, Jul 24 -
From Evolution to Revolution: Building the 21st Century Genomic Infrastructure,
ITIF, Jul 23 -
Richard Graham Hay Cotton 1940-2015.
Smith Tim, et al. Nature genetics 2015 8 0. (8) 850 -
PCSK9 inhibitors, a historic change in cardiovascular care,
by Seth J. Baum, Preventive Cardiology Inc, Jul 27 -
National Academies to Establish Human Gene Editing Guidelines.
Jacob Julie et al. JAMA 2015 Jul 28. 314(4) 330 -
Patients' medical records soon may have genetic results,
US News & World Report, Jul 23 -
Did You Inherit High Cholesterol? This New Drug May Help,
Everyday Health, July 29, 2015 -
Computer program hijacks 23andMe data, raises genetic discrimination concerns,
by Stephanie M. Lee, Genetic Literacy Project, Jul 24 -
Software to predict exactly what happens when you edit a gene,
by Alexandra Ossola, Popular Science, Jul 23