Birth Defects and Child Health
Comorbidity of intellectual disability confounds ascertainment of autism: Implications for genetic diagnosis.
Polyak A et al. Am. J. Med. Genet. B Neuropsychiatr. Genet. 2015 Jul 22.
Polyak A 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 R et al. Neurology 2015 Jul 28. 85(4) 357-64
Tawil R et al. Neurology 2015 Jul 28. 85(4) 357-64
Cancer
Contemporary challenges in genetic testing for breast cancer: A collaboration opportunity for genetic counselors and breast surgeons.
Larsen HJ et al. Ann. Surg. Oncol. 2015 Jul 28.
Larsen HJ et al. Ann. Surg. Oncol. 2015 Jul 28.
Diagnostic performance of whole-body MRI as a tool for cancer screening in children with genetic cancer-predisposing conditions.
Anupindi SA et al. AJR Am J Roentgenol 2015 Aug 205(2) 400-8
Anupindi SA et al. AJR Am J Roentgenol 2015 Aug 205(2) 400-8
DNA mismatch repair status predicts need for future colorectal surgery for metachronous neoplasms in young individuals undergoing colorectal cancer resection.
Aronson M et al. Dis. Colon Rectum 2015 Jul 58(7) 645-52
Aronson M et al. Dis. Colon Rectum 2015 Jul 58(7) 645-52
Do health professionals need additional competencies for stratified cancer prevention based on genetic risk profiling?
Chowdhury S, et al. J Pers Med. 2015 Jun 9;5(2):191-212.
Chowdhury S, et al. J Pers Med. 2015 Jun 9;5(2):191-212.
Using genomics in complex diseases: do health professionals need new skills? By Dr Susmita Chowdhury, PHG Foundation, Jul 24
By Dr Susmita Chowdhury, PHG Foundation, Jul 24Establishing a clinical and molecular diagnosis for hereditary colorectal cancer syndromes: Present tense, future perfect?
Jansen M et al. Gastrointest. Endosc. 2014 Dec 80(6) 1145-55
Jansen M et al. Gastrointest. Endosc. 2014 Dec 80(6) 1145-55
Implementation of a molecular tumor board: The impact on treatment decisions for 35 patients evaluated at Dartmouth-Hitchcock Medical Center.
Tafe LJ et al. Oncologist 2015 Jul 23.
Tafe LJ et al. Oncologist 2015 Jul 23.
Negative genetic testing does not deter contralateral prophylactic mastectomy in younger patients with greater family histories of breast cancer.
Wang F et al. Ann. Surg. Oncol. 2015 Jul 28.
Wang F et al. Ann. Surg. Oncol. 2015 Jul 28.
Next-generation sequencing to guide cancer therapy
Gagan J, et al. Genome Medicine 2015, 7:80
Gagan J, et al. Genome Medicine 2015, 7:80
PanGen-Fam: Spanish registry of hereditary pancreatic cancer.
Mocci E et al. Eur. J. Cancer 2015 Jul 23.
Mocci E et al. Eur. J. Cancer 2015 Jul 23.
Predictors of self-reported family health history of breast cancer.
Ricks-Santi LJ et al. J Immigr Minor Health 2015 Jul 23.
Ricks-Santi LJ et al. J Immigr Minor Health 2015 Jul 23.
Racial variation in adjuvant chemotherapy initiation among breast cancer patients receiving oncotype DX testing.
Roberts MC et al. Breast Cancer Res. Treat. 2015 Jul 28.
Roberts MC et al. Breast Cancer Res. Treat. 2015 Jul 28.
Screening for Lynch syndrome among patients with newly diagnosed endometrial cancer: a comprehensive review.
Aguirre E et al. Tumori 2015 Jul 15. 0(0) 0
Aguirre E et al. Tumori 2015 Jul 15. 0(0) 0
Screening for Lynch syndrome and referral to clinical genetics by selective mismatch repair protein immunohistochemistry testing: an audit and cost analysis.
Colling R et al. J. Clin. Pathol. 2015 Jul 22.
Colling R et al. J. Clin. Pathol. 2015 Jul 22.
The evolving landscape of HER2 targeting in breast cancer.
Moasser MM, Krop IE. JAMA Oncol. 2015 Jul 23.
Moasser MM, Krop IE. JAMA Oncol. 2015 Jul 23.
The genetics of inherited predispositions to colorectal polyps: a quick guide for clinicians.
Ricci MT et al. Colorectal Dis 2015 Jan 17 Suppl 13-9
Ricci MT et al. Colorectal Dis 2015 Jan 17 Suppl 13-9
The risk factors of toxicity during chemotherapy and radiotherapy in breast cancer patients according to the presence of BRCA gene mutation.
Huszno J et al. Contemp Oncol (Pozn) 2015 19(1) 72-6
Huszno J et al. Contemp Oncol (Pozn) 2015 19(1) 72-6
Treatment decision making and genetic testing for breast cancer: mainstreaming mutations.
Katz SJ et al. JAMA 2015 Jul 23.
Katz SJ et al. JAMA 2015 Jul 23.
Using genomics in complex diseases: do health professionals need new skills? By Dr Susmita Chowdhury, PHG Foundation, Jul 24
By Dr Susmita Chowdhury, PHG Foundation, Jul 24 Chronic Diseases
Future translational applications from the contemporary genomics era: a scientific statement from the American Heart Association.
Fox CS et al. Circulation 2015 May 12. 131(19) 1715-36
Fox CS et al. Circulation 2015 May 12. 131(19) 1715-36
Liver transplantation as a definitive treatment for familial hypercholesterolemia: A series of 36 cases.
Mansoorian M et al. Pediatr Transplant 2015 Sep 19(6) 605-11
Mansoorian M et al. Pediatr Transplant 2015 Sep 19(6) 605-11
Prevalence of Fabry disease in dialysis patients: Japan Fabry disease screening study (J-FAST).
Saito O et al. Clin. Exp. Nephrol. 2015 Jul 22.
Saito O et al. Clin. Exp. Nephrol. 2015 Jul 22.
The Irish Kidney Gene Project - Prevalence of family history in patients with kidney disease in Ireland.
Connaughton DM et al. Nephron 2015 Jul 18.
Connaughton DM et al. Nephron 2015 Jul 18.
Ethics, Policy and Law
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
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 IM et al. J Genet Couns 2015 Apr 26.
Hein IM et al. J Genet Couns 2015 Apr 26.
Genomics in Practice
From genes to genomes in the clinic 
[PDF 336.32 KB]
Veltman JA, et al. Genome Medicine (2015) 7:78
[PDF 336.32 KB] Veltman JA, et al. Genome Medicine (2015) 7:78
Defining our clinical practice: The identification of genetic counseling outcomes utilizing the reciprocal engagement model.
Redlinger-Grosse K et al. J Genet Couns 2015 Jul 25.
Redlinger-Grosse K et al. J Genet Couns 2015 Jul 25.
Framework for the integration of genomics, epigenomics and transcriptomics in complex diseases.
Pineda S et al. Hum. Hered. 2015 79(3-4) 124-36
Pineda S et al. Hum. Hered. 2015 79(3-4) 124-36
GeneCOST: a novel scoring-based prioritization framework for identifying disease causing genes.
Ozer B et al. Bioinformatics 2015 Jul 21.
Ozer B et al. Bioinformatics 2015 Jul 21.
GeneVetter: a web tool for quantitative monogenic assessment of rare diseases.
Gillies CE et al. Bioinformatics 2015 Jul 23.
Gillies CE et al. Bioinformatics 2015 Jul 23.
Scope of practice: a statement of the American College of Medical Genetics and Genomics (ACMG).
Genet. Med. 2015 Jul 23.
Genet. Med. 2015 Jul 23.
SMART on FHIR Genomics: Facilitating standardized clinico-genomic apps.
Alterovitz Gil et al. J Am Med Inform Assoc 2015 Jul 21.
Alterovitz Gil et al. J Am Med Inform Assoc 2015 Jul 21.
Pharmacogenomics
International warfarin genotype-guided dosing algorithms in the Turkish population and their preventive effects on major and life-threatening hemorrhagic events.
Karaca S et al. Pharmacogenomics 2015 Jul 28. 1-10
Karaca S et al. Pharmacogenomics 2015 Jul 28. 1-10
Reproductive Health
Advantages and disadvantages of different implementation strategies of non-invasive prenatal testing in Down syndrome screening programmes.
Mersy E et al. Public Health Genomics 2015 Jul 18.
Mersy E et al. Public Health Genomics 2015 Jul 18.
Global genetic carrier testing: a vision for the future
Beaudet AL Genome Medicine 2015, 7:79
Beaudet AL Genome Medicine 2015, 7:79
Prenatal screening of 21 microdeletion/microduplication syndromes and subtelomeric imbalances by MLPA in fetuses with increased nuchal translucency and normal karyotype.
Gouas L et al. Cytogenet. Genome Res. 2015 Jul 21.
Gouas L et al. Cytogenet. Genome Res. 2015 Jul 21.
The promise of non-invasive prenatal testing needs to be monitored scientifically.
Lonardo F et al. BMJ 2015 350h2518
Lonardo F et al. BMJ 2015 350h2518
Use of the combined first-trimester screen in high- and low-risk patient populations after introduction of noninvasive prenatal testing.
Larion S et al. J Ultrasound Med 2015 Aug 34(8) 1423-8
Larion S et al. J Ultrasound Med 2015 Aug 34(8) 1423-8
Reviews, News and Commentaries
National Academies to establish human gene editing guidelines.
Jacob Julie et al. JAMA 2015 Jul 28. 314(4) 330
Jacob Julie et al. JAMA 2015 Jul 28. 314(4) 330
Marshaling the variome
Nature Genetics 47, 849 (2015)
Nature Genetics 47, 849 (2015)
Richard Graham Hay Cotton 1940–2015
Smith T & Taylor G Nature Genetics 47, 850 (2015)
Smith T & Taylor G Nature Genetics 47, 850 (2015)
Genomics and policy news monthly round-up - July 2015, by Rebecca Burbidge, PHG Foundation, Jul 30
by Rebecca Burbidge, PHG Foundation, Jul 30Did you inherit high cholesterol? This new drug may help, Everyday Health, July 29
Everyday Health, July 29Before that genomics revolution, we need interoperability, patient engagement and privacy, by Meghana Keshavan, MedCity News, Jul 27
by Meghana Keshavan, MedCity News, Jul 27PCSK9 inhibitors, a historic change in cardiovascular care, by Seth J. Baum, Preventive Cardiology Inc, Jul 27
by Seth J. Baum, Preventive Cardiology Inc, Jul 27Precision medicine trials bring targeted treatments to more patients, by Caroline Helwick, ASCO Post, Jul 25
by Caroline Helwick, ASCO Post, Jul 25Computer program hijacks 23andMe data, raises genetic discrimination concerns, by Stephanie M. Lee, Genetic Literacy Project, Jul 24
by Stephanie M. Lee, Genetic Literacy Project, Jul 24New drug sharply lowers cholesterol, but it’s costly, by Andrew Pollack, New York Times, Jul 24
by Andrew Pollack, New York Times, Jul 24Patients' medical records soon may have genetic results, US News & World Report, Jul 23
US News & World Report, Jul 23Software to predict exactly what happens when you edit a gene, by Alexandra Ossola, Popular Science, Jul 23
by Alexandra Ossola, Popular Science, Jul 23All should benefit from precision medicine's advances, by Carolyn Plunkett, Lisa Kearns and Arthur Caplan, The Tennessean, Jun 9
by Carolyn Plunkett, Lisa Kearns and Arthur Caplan, The Tennessean, Jun 9Tools and Databases
Genome modeling system: A knowledge management platform for genomics.
Griffith M, et al. PLoS Comput Biol. 2015 Jul 9;11(7):e1004274
Griffith M, et al. PLoS Comput Biol. 2015 Jul 9;11(7):e1004274
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