Volume 34 Number 14 April 9-16, 2015
Birth Defects and Child Health
Evidence-based guideline summary: Evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.
Kang PB et al. Neurology 2015 Mar 31. 84(13) 1369-78
Kang PB et al. Neurology 2015 Mar 31. 84(13) 1369-78
Cancer
Are women willing to change breast cancer screening guidelines?
Cohn W et al. Cancer Epidemiol. Biomarkers Prev. 2015 Apr 24(4) 765
Cohn W et al. Cancer Epidemiol. Biomarkers Prev. 2015 Apr 24(4) 765
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer
Rebbeck TR, et al. JAMA. 2015;313(13):1347-1361
Rebbeck TR, et al. JAMA. 2015;313(13):1347-1361
Concerns about cancer risk and experiences with genetic testing in a diverse population of patients with breast cancer
Jagsi R, et al. Journal of Clinical Oncology 2015 Apr 6
Jagsi R, et al. Journal of Clinical Oncology 2015 Apr 6
A third of breast cancer patients concerned about genetic risk, Medical Xpress, Apr 6
Medical Xpress, Apr 6Decision making about contralateral prophylactic mastectomy among BRCA1/2 noncarriers with newly-diagnosed breast cancer: Examining cognitive, emotional, and sociodemographic influences.
Hamilton JG, et al. Cancer Epidemiol Biomarkers Prev. 2015 Apr;24(4):760.
Hamilton JG, et al. Cancer Epidemiol Biomarkers Prev. 2015 Apr;24(4):760.
Evaluating the clinical impact of a genomic classifier in prostate cancer using individualized decision analysis.
Lobo JM et al. PLoS ONE 2015 10(3) e0116866
Lobo JM et al. PLoS ONE 2015 10(3) e0116866
Factors affecting informed decision-making in women with increased breast cancer risk or DCIS pursuing contralateral prophylactic mastectomy.
Valente J et al. Cancer Epidemiol. Biomarkers Prev. 2015 Apr 24(4) 761
Valente J et al. Cancer Epidemiol. Biomarkers Prev. 2015 Apr 24(4) 761
Factors associated with guideline-recommended KRAS testing in colorectal cancer patients: A population-based study.
Charlton ME et al. Am. J. Clin. Oncol. 2015 Apr 1.
Charlton ME et al. Am. J. Clin. Oncol. 2015 Apr 1.
Five years of cancer drug approvals
Mailankody S, et al. JAMA Oncol. 2015 Apr 2
Mailankody S, et al. JAMA Oncol. 2015 Apr 2
Implementation and outcomes of telephone disclosure of clinical BRCA1/2 test results.
Patrick-Miller L et al. Patient Educ Couns 2013 Dec 93(3) 413-9
Patrick-Miller L et al. Patient Educ Couns 2013 Dec 93(3) 413-9
Participation of Korean families at high risk for hereditary breast and ovarian cancer in BRCA1/2 genetic testing.
Sun Y et al. Jpn. J. Clin. Oncol. 2015 Apr 2.
Sun Y et al. Jpn. J. Clin. Oncol. 2015 Apr 2.
Patient feedback and early outcome data with a novel tiered-binned model for multiplex breast cancer susceptibility testing.
Bradbury AR et al. Genet. Med. 2015 Apr 2.
Bradbury AR et al. Genet. Med. 2015 Apr 2.
When to consider referral to a genetic counselor for lesser known cancer syndromes
Heydrich CE, et al. Contemporary Oncology 2015 Apr 5
Heydrich CE, et al. Contemporary Oncology 2015 Apr 5
Chronic Diseases
Patient beliefs and behaviors about genomic risk for Type 2 diabetes: Implications for prevention.
Gallagher P et al. J Health Commun 2015 Apr 6. 1-8
Gallagher P et al. J Health Commun 2015 Apr 6. 1-8
Searching for the kinkeepers: Historian gender, age, and Type 2 diabetes family history.
Giordimaina AM et al. Health Educ Behav 2015 Apr 4.
Giordimaina AM et al. Health Educ Behav 2015 Apr 4.
Ethics, Policy and Law
Disclosing genetic information to at-risk relatives: new Australian privacy principles, but uniformity still elusive.
Otlowski MF et al. Med. J. Aust. 2015 Apr 6. 202(6) 335-7
Otlowski MF et al. Med. J. Aust. 2015 Apr 6. 202(6) 335-7
Overcoming challenges to meaningful informed consent for whole genome sequencing in pediatric cancer research.
Oberg JA et al. Pediatr Blood Cancer 2015 Apr 1.
Oberg JA et al. Pediatr Blood Cancer 2015 Apr 1.
Genomics in Practice
An atlas of genetic correlations across human diseases and traits
Bulik-Sullivan B, et al. bioRxiv 2015 Apr 6
Bulik-Sullivan B, et al. bioRxiv 2015 Apr 6
Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes
Jang MA, et al. Genetics in Medicine (2015) Apr 9
Jang MA, et al. Genetics in Medicine (2015) Apr 9
Key emerging themes for assessing the cost-effectiveness of reporting incidental findings.
Phillips KA et al. Genet. Med. 2015 Apr 17(4) 314-5
Phillips KA et al. Genet. Med. 2015 Apr 17(4) 314-5
Translating rare-disease therapies into improved care for patients and families: what are the right outcomes, designs, and engagement approaches in health-systems research?
Potter B, et al. Genetics in Medicine (2015) Apr 9
Potter B, et al. Genetics in Medicine (2015) Apr 9
Uptake of genetic counseling, knowledge of bleeding risks and psychosocial impact in a South African cohort of female relatives of people with hemophilia.
Gillham A et al. J Genet Couns 2015 Apr 2.
Gillham A et al. J Genet Couns 2015 Apr 2.
Newborn Screening
Benign outcome among positive cystic fibrosis newborn screen children with non-CF-causing variants.
Salinas DB et al. J. Cyst. Fibros. 2015 Mar 28.
Salinas DB et al. J. Cyst. Fibros. 2015 Mar 28.
Implementation of newborn screening for hemoglobin H disease in mainland China.
Xie XM et al. Indian J Hematol Blood Transfus 2015 Jun 31(2) 242-6
Xie XM et al. Indian J Hematol Blood Transfus 2015 Jun 31(2) 242-6
Systematic neonatal screening for severe combined immunodeficiency and severe T-cell lymphopenia: Analysis of cost-effectiveness based on French real field data.
Clément MC et al. J. Allergy Clin. Immunol. 2015 Apr 1.
Clément MC et al. J. Allergy Clin. Immunol. 2015 Apr 1.
Pharmacogenomics
Evaluation of a shared pharmacogenomics curriculum for pharmacy students.
Lee KC et al. Pharmacogenomics 2015 Mar 16(4) 315-22
Lee KC et al. Pharmacogenomics 2015 Mar 16(4) 315-22
Reproductive Health
Accurate description of DNA-based noninvasive prenatal screening.
Cheung SW et al. N. Engl. J. Med. 2015 Apr 1.
Cheung SW et al. N. Engl. J. Med. 2015 Apr 1.
Is maternal plasma DNA testing impacting serum-based screening for aneuploidy in the United States?
Palomaki G et al. Genetics in Medicine, April 2, 2015
Palomaki G et al. Genetics in Medicine, April 2, 2015
Non-invasive prenatal screening for aneuploidy: Positive predictive values based on cytogenetic findings.
Meck JM et al. Am. J. Obstet. Gynecol. 2015 Apr 3.
Meck JM et al. Am. J. Obstet. Gynecol. 2015 Apr 3.
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations.
Dondorp W et al. Eur. J. Hum. Genet. 2015 Apr 1.
Dondorp W et al. Eur. J. Hum. Genet. 2015 Apr 1.
Publications and operational guidance:1 April 2015 - updated guidance for health professionals,NHS Fetal Anomaly Screening Programme
NHS Fetal Anomaly Screening ProgrammeReviews, News and Commentaries
Cancer and the microbiota.
Garrett WS. Science. 2015 Apr 3;348(6230):80-6.
Garrett WS. Science. 2015 Apr 3;348(6230):80-6.
FDA okays first direct-to-consumer genetic test
Rita Rubin, MA JAMA. 2015;313(13):1306.
Rita Rubin, MA JAMA. 2015;313(13):1306.
Key elements for nourishing the translational research environment
Volk HD, et al. Sci Transl Med 8 April 2015:
Volk HD, et al. Sci Transl Med 8 April 2015:
Breast cancer risk test devised in 77-gene analysis, by James Gallagher, BBC News, Apr 9
by James Gallagher, BBC News, Apr 9Genetic screening could improve breast cancer prevention, University Cambridge, Apr 9
University Cambridge, Apr 9Of microbes, molecules, and maps, by Francis Collins, NIH Director’s Blog, Apr 9
by Francis Collins, NIH Director’s Blog, Apr 9Would I have the genome of my baby sequenced? New Scientist, Apr 9
New Scientist, Apr 9Core services: Reward bioinformaticians, by Jeffrey Chang, Nature News, Apr 8
by Jeffrey Chang, Nature News, Apr 8Family battling Lynch Syndrome shares story of strength, King 5, Apr 6
King 5, Apr 6Inheritance: How our genes change our lives - a review, Genome Alberta Blog, Apr 6
Genome Alberta Blog, Apr 6Studying Ebola survivors, by Amanda B. Keener, The Scientist, Apr 6
by Amanda B. Keener, The Scientist, Apr 6What are we talking about when we talk about population health? By David Kindig, Health Affairs Blog, Apr 6
By David Kindig, Health Affairs Blog, Apr 6Facing death as a teenager, Lens Blog, New York Times, Apr 5
Lens Blog, New York Times, Apr 5Autism Spectrum Disorder: The special bond between siblings, by Cynthia Moore, HHS Blog, Apr 2
by Cynthia Moore, HHS Blog, Apr 2Circulating tumor DNA in blood can predict recurrence of the most common type of lymphoma,NIH News, Apr 2
NIH News, Apr 2New guidelines on colorectal cancer molecular testing, by Roxanne Nelson, Medscape, Apr 2 [by free subscription only]
by Roxanne Nelson, Medscape, Apr 2 [by free subscription only]State of the nation: decoding the Icelandic genome, Genomics Education Programme, Apr 2
Genomics Education Programme, Apr 2Cancer and genetic data, the New York Times, Apr 1
the New York Times, Apr 1Family history is relevant for genetic testing for cancer, by Marilyn Schairer, WGBH, Apr 1
by Marilyn Schairer, WGBH, Apr 1Rare disease diagnosis: "Rise of the machines", CVID, Primary Immune and Rare Diseases Blog, Apr 1
CVID, Primary Immune and Rare Diseases Blog, Apr 1Resisting cancer, by George Klein, the Scientist, Apr 1
by George Klein, the Scientist, Apr 1
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