Published on 04/01/2015
Human Genomics across the Lifespan
Birth Defects and Child Health
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Doctors' awareness concerning primary immunodeficiencies in Brazil.
Dantas E O et al. Allergol Immunopathol (Madr) 2015 Mar 18. -
ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders.
King M-J et al. Int J Lab Hematol 2015 Mar 18.
Cancer
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Validation of an online questionnaire for identifying people at risk of familial and hereditary colorectal cancer.
Kallenberg F G J et al. Fam. Cancer 2015 Mar 24. -
Risk-reducing surgery in hereditary gynecological cancer: Clinical applications in Lynch syndrome and hereditary breast and ovarian cancer.
Adachi Masataka et al. Mol Clin Oncol 2015 Mar 3(2) 267-273 -
Personalized oncogenomics: clinical experience with malignant peritoneal mesothelioma using whole genome sequencing.
Sheffield Brandon S et al. PLoS ONE 2015 10(3) e0119689 -
In the Era of Genomics, Should Tumor Size Be Reconsidered as a Criterion for Neoadjuvant Chemotherapy?
Pivot Xavier et al. Oncologist 2015 Mar 20. -
miR-Test: A Blood Test for Lung Cancer Early Detection.
Montani Francesca et al. J. Natl. Cancer Inst. 2015 Jun 107(6) -
Comparative effectiveness of screening strategies for lynch syndrome.
Barzi Afsaneh et al. J. Natl. Cancer Inst. 2015 Apr 107(4) -
Family matters in lynch syndrome.
Kastrinos Fay et al. J. Natl. Cancer Inst. 2015 Apr 107(4) -
Genotype-Phenotype Correlations by Ethnicity and Mutation Location in BRCA Mutation Carriers.
Bayraktar Soley et al. Breast J 2015 Mar 19. -
A retrospective study of the impact of 21-gene recurrence score assay on treatment choice in node positive micrometastatic breast cancer.
Frazier Thomas G et al. Pharmaceuticals (Basel) 2015 8(1) 107-22 -
Identification of a candidate gene panel for the early diagnosis of prostate cancer.
Leyten Gisele H J M et al. Clin. Cancer Res. 2015 Mar 18. -
Breast Cancer Risk After Salpingo-Oophorectomy in Healthy BRCA1/2 Mutation Carriers: Revisiting the Evidence for Risk Reduction.
Heemskerk-Gerritsen B A M et al. J. Natl. Cancer Inst. 2015 May 107(5) -
Cancer risks in Jewish male BRCA1 and BRCA2 mutation carriers.
Laitman Yael et al. Breast Cancer Res. Treat. 2015 Mar 19. -
Psychosocial Impact of Lynch Syndrome on Affected Individuals and Families.
Galiatsatos Polymnia et al. Dig. Dis. Sci. 2015 Mar 19. -
Effects of genetic and environmental risk assessment feedback on colorectal cancer screening adherence.
Myers Ronald E et al. J Behav Med 2015 Mar 18. -
Personalized assessment and management of women at risk for breast cancer in North America.
Pruthi Sandhya et al. Womens Health (Lond Engl) 2015 Mar 11(2) 213-24
Chronic Disease
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Familial Spontaneous Coronary Artery Dissection: Evidence for Genetic Susceptibility.
Goel Kashish et al. JAMA Intern Med 2015 Mar 23. -
Clinical experience of scoring criteria for Familial Hypercholesterolaemia (FH) genetic testing in Wales.
Haralambos K et al. Atherosclerosis 2015 Mar 6. 240(1) 190-196 -
Comparison of coronary heart disease genetic assessment with conventional cardiovascular risk assessment in primary care: reflections on a feasibility study.
Qureshi Nadeem et al. Prim Health Care Res Dev 2015 Mar 23. 1-11 -
Genetic testing: Genetic risk and statin preventative therapy.
Bahcall Orli G et al. Nat. Rev. Genet. 2015 Apr 16(4) 194 -
A Novel Testing Model for Opportunistic Screening of Pre-Diabetes and Diabetes among U.S. Adults.
Zhang Yurong et al. PLoS ONE 2015 10(3) e0120382 -
Stroke patients' knowledge about cardiovascular family history?-?the Norwegian Stroke in the Young Study (NOR-SYS).
Øygarden Halvor et al. BMC Neurol 2015 Dec 15(1) 276
Ethics/Policy/Law
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The right to know and genetic testing.
Sheehan Mark et al. J Med Ethics 2015 Apr 41(4) 287-8 -
The Impact of Commercialisation and Genetic Data Sharing Arrangements on Public Trust and the Intention to Participate in Biobank Research.
Critchley Christine et al. Public Health Genomics 2015 Mar 13.
Practice
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Direct-to-consumer genetic testing in Slovenia: availability, ethical dilemmas and legislation.
Vrecar Irena et al. Biochem Med (Zagreb) 2015 25(1) 84-9 -
Public Perceptions of Disease Severity but Not Actionability Correlate with Interest in Receiving Genomic Results: Nonalignment with Current Trends in Practice.
Graves Kristi D et al. Public Health Genomics 2015 Mar 12. -
Family Genome Browser: Visualizing Genomes with Pedigree Information.
Juan Liran et al. Bioinformatics 2015 Mar 18. -
Individualized medicine enabled by genomics in Saudi Arabia.
Abu-Elmagd Muhammad et al. BMC Med Genomics 2015 8531 -
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.
Drew Alexander P et al. Mol Genet Genomic Med 2015 Mar 3(2) 143-54 -
Genetics and genomic medicine in Colombia.
De Castro Mauricio et al. Mol Genet Genomic Med 2015 Mar 3(2) 84-91 -
Genetic counselors and Genomic Counseling in the United Kingdom.
Middleton Anna et al. Mol Genet Genomic Med 2015 Mar 3(2) 79-83
Pharmacogenomics
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Clinical pharmacogenetics implementation consortium (CPIC) guidelines for CYP3A5 genotype and tacrolimus dosing.
Birdwell Kelly A et al. Clin. Pharmacol. Ther. 2015 Mar 18. -
ASHP Statement on the Pharmacist's Role in Clinical Pharmacogenomics.
Am J Health Syst Pharm 2015 Apr 1. 72(7) 579-81 -
Challenges to Integrating Pharmacogenetic Testing into Medication Therapy Management.
Haga Susanne B et al. J Manag Care Spec Pharm 2015 Apr 21(4) 346-352 -
Pharmacogenetic Testing for Analgesic Adverse Effects: Pediatric Case Series.
Manworren Renee C B et al. Clin J Pain 2015 Mar 23.
Reproductive Health
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A First Look at Women's Perspectives on Noninvasive Prenatal Testing to Detect Sex Chromosome Aneuploidies and Microdeletion Syndromes.
Agatisa Patricia K et al. Prenat. Diagn. 2015 Mar 19.
Tools/Databases
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PathVisio 3: an extendable pathway analysis toolbox.
Kutmon Martina et al. PLoS Comput. Biol. 2015 Feb 11(2) e1004085
News/ Reviews/Comments
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Harnessing RNA Interference for Therapy: The Silent Treatment.
Lieberman Judy et al. JAMA 2015 Mar 24. 313(12) 1207-1208 -
Precision medicine: Who benefits from aspirin to prevent colorectal cancer?
By Dr. Francis Collins, NIH, Mar 24 -
Extreme cryptography paves way to personalized medicine,
by Erika Check Hayden, Nature News, Mar 23 -
Zackary Berger and Dave deBronkart: ?Precision medicine? needs patient partnership,
The BMJ, Mar 20 -
NIH awards CCHMC $2.2M to develop database of rare childhood genetic disorders,
Genome Web, Mar 24 [by free subscription only] -
Prenatal screening advances with non-invasive blood test now available in Australia,
ABC.au News, March 23 -
This is why you shouldn?t believe that exciting new medical study,
by Julia Belluz, Vox, Mar 23 -
Too young for colorectal cancer?
By Kathleen Hoffman, Medivizor, Mar 19