Volume 34 Number 25 June 25 - July 2, 2015
Birth Defects and Child Health
Inherited DOCK2 deficiency in patients with early-onset invasive infections.
Dobbs K et al. N. Engl. J. Med. 2015 Jun 18. 372(25) 2409-22
Dobbs K et al. N. Engl. J. Med. 2015 Jun 18. 372(25) 2409-22
Massively parallel sequencing for genetic diagnosis of hearing loss: The new standard of care.
Shearer AE et al. Otolaryngol Head Neck Surg 2015 Jun 17.
Shearer AE et al. Otolaryngol Head Neck Surg 2015 Jun 17.
Obtaining a genetic diagnosis in a child with disability: Impact on parental quality of life.
Lingen M et al. Clin. Genet. 2015 Jun 18.
Lingen M et al. Clin. Genet. 2015 Jun 18.
Cancer
Discussion of photoprotection, screening, and risk behaviors with children and grandchildren after melanoma genetic testing.
Wu YP et al. J Community Genet 2015 Jun 23.
Wu YP et al. J Community Genet 2015 Jun 23.
Economic impact of gene expression profiling in patients with early-stage breast cancer in France.
Katz G et al. PLoS ONE 2015 10(6) e0128880
Katz G et al. PLoS ONE 2015 10(6) e0128880
High accuracy of family history of melanoma in Danish melanoma cases.
Wadt KA et al. Fam. Cancer 2015 Jun 21.
Wadt KA et al. Fam. Cancer 2015 Jun 21.
Massively parallel functional analysis of BRCA1 RING domain variants.
Starita LM et al. Genetics 2015 Jun 200(2) 413-22
Starita LM et al. Genetics 2015 Jun 200(2) 413-22
Osteoporosis risk and management in BRCA 1 and BRCA 2 carriers who undergo risk-reducing salpingo-oophorectomy.
Garcia C et al. Gynecol. Oncol. 2015 Jun 15.
Garcia C et al. Gynecol. Oncol. 2015 Jun 15.
Using proliferative markers and Oncotype DX in therapeutic decision-making for breast cancer: the B.C. experience.
Baxter E et al. Curr Oncol 2015 Jun 22(3) 192-8
Baxter E et al. Curr Oncol 2015 Jun 22(3) 192-8
Chronic Diseases
Does a family history of RA influence the clinical presentation and treatment response in RA?
Frisell T et al. Ann. Rheum. Dis. 2015 Jun 19.
Frisell T et al. Ann. Rheum. Dis. 2015 Jun 19.
Predictive genetic testing for Huntington's disease: A journey with a genetic counselor as your guide,
by Alicia Semaka, Huffington Post Blog, Jun 18
by Alicia Semaka, Huffington Post Blog, Jun 18
Ethics, Policy and Law
Challenges of web-based personal genomic data sharing.
Shabani M et al. Life Sci Soc Policy 2015 Dec 11(1) 22
Shabani M et al. Life Sci Soc Policy 2015 Dec 11(1) 22
Ethical considerations of research policy for personal genome analysis: the approach of the Genome Science Project in Japan.
Minari J et al. Life Sci Soc Policy 2014 Dec 10(1) 4
Minari J et al. Life Sci Soc Policy 2014 Dec 10(1) 4
Open consent, biobanking and data protection law: can open consent be 'informed' under the forthcoming data protection regulation?
Hallinan D et al. Life Sci Soc Policy 2015 Dec 11(1) 20
Hallinan D et al. Life Sci Soc Policy 2015 Dec 11(1) 20
The intersection of relational autonomy and narrative ethics for the patient unwilling to disclose genetic diagnosis information.
Gallagher M et al. Life Sci Soc Policy 2014 Dec 10(1) 7
Gallagher M et al. Life Sci Soc Policy 2014 Dec 10(1) 7
Genomics in Practice
Are physicians prepared for whole genome sequencing? A qualitative analysis.
Christensen KD et al. Clin. Genet. 2015 Jun 17.
Christensen KD et al. Clin. Genet. 2015 Jun 17.
Challenges for providing genetic counselling in Colombian genetic clinics: the viewpoint of the physicians providing genetic consultations.
Rodas-Pérez C et al. J Community Genet 2015 Jun 19.
Rodas-Pérez C et al. J Community Genet 2015 Jun 19.
Enhancing genomic laboratory reports from the patients' view: A qualitative analysis.
Stuckey H et al. Am. J. Med. Genet. A 2015 Jun 18.
Stuckey H et al. Am. J. Med. Genet. A 2015 Jun 18.
Genetic testing: Clinical whole-genome sequencing.
Bahcall OG et al. Nat. Rev. Genet. 2015 Jun 18. 16(7) 377
Bahcall OG et al. Nat. Rev. Genet. 2015 Jun 18. 16(7) 377
Genotyping informatics and quality control for 100,000 subjects in the genetic epidemiology research on adult health and aging (GERA) cohort.
Kvale MN et al. Genetics 2015 Jun 19.
Kvale MN et al. Genetics 2015 Jun 19.
Health-care professionals' responsibility to patients' relatives in genetic medicine: a systematic review and synthesis of empirical research
Dheensa S, et al. Genetics in Medicine 2015 June 25
Dheensa S, et al. Genetics in Medicine 2015 June 25
How well do customers of direct-to-consumer personal genomic testing services comprehend genetic test results? Findings from the Impact of Personal Genomics Study.
Ostergren JE et al. Public Health Genomics 2015 Jun 16.
Ostergren JE et al. Public Health Genomics 2015 Jun 16.
Implementing mass-scale red cell genotyping at a blood center.
Flegel WA et al. Transfusion 2015 Jun 20.
Flegel WA et al. Transfusion 2015 Jun 20.
Seven questions for personalized medicine.
Joyner MJ et al. JAMA 2015 Jun 22.
Joyner MJ et al. JAMA 2015 Jun 22.
Success stories in genomic medicine from resource-limited countries.
Mitropoulos K et al. Hum. Genomics 2015 Jun 18. 9(1) 11
Mitropoulos K et al. Hum. Genomics 2015 Jun 18. 9(1) 11
Understandings of genomic research in developing countries: a qualitative study of the views of MalariaGEN participants in Mali.
Traore K et al. BMC Med Ethics 2015 1642
Traore K et al. BMC Med Ethics 2015 1642
Newborn Screening
Classic congenital adrenal hyperplasia due to 21-hydroxylase-deficiency: 13 years of neonatal screening and follow-up in Bavaria.
Odenwald B et al. Klin Padiatr 2015 Jun 19.
Odenwald B et al. Klin Padiatr 2015 Jun 19.
Cystic fibrosis carrier screening effects on birth prevalence and newborn screening.
Castellani C et al. Genet. Med. 2015 Jun 18.
Castellani C et al. Genet. Med. 2015 Jun 18.
Ten-year evaluation of a neonatal screening program for congenital adrenal hyperplasia.
Nascimento ML et al. Arq Bras Endocrinol Metabol 2014 Oct 58(7) 765-71
Nascimento ML et al. Arq Bras Endocrinol Metabol 2014 Oct 58(7) 765-71
Utility of a very high IRT/No mutation referral category in cystic fibrosis newborn screening.
Kay DM et al. Pediatr. Pulmonol. 2015 Jun 22.
Kay DM et al. Pediatr. Pulmonol. 2015 Jun 22.
Pharmacogenomics
Association of an inherited genetic variant with vincristine-related peripheral neuropathy in children with acute lymphoblastic leukemia.
Diouf B, et al. JAMA. 2015 Feb 24;313(8):815-23.
Diouf B, et al. JAMA. 2015 Feb 24;313(8):815-23.
Clinical pharmacogenetics implementation consortium (CPIC) guidelines for human leukocyte antigen B (HLA-B) genotype and allopurinol dosing: 2015 update.
Saito Y et al. Clin. Pharmacol. Ther. 2015 Jun 10.
Saito Y et al. Clin. Pharmacol. Ther. 2015 Jun 10.
Combinatorial pharmacogenomic guidance for psychiatric medications reduces overall pharmacy costs in a one year prospective evaluation.
Winner JG et al. Curr Med Res Opin 2015 Jun 18. 1-30
Winner JG et al. Curr Med Res Opin 2015 Jun 18. 1-30
Eric Topol: Frustrated that doctors are slow to adopt pharmacogenomics, Medcity News, Jun 18
Medcity News, Jun 18Psychiatric pharmacists' perception on the use of pharmacogenomic testing in the mental health population.
Shishko I et al. Pharmacogenomics 2015 Jun 23. 1-10
Shishko I et al. Pharmacogenomics 2015 Jun 23. 1-10
The cost-effectiveness of UGT1A1 genotyping before colorectal cancer treatment with irinotecan from the perspective of the German statutory health insurance.
Butzke B et al. Acta Oncol 2015 Jun 22. 1-11
Butzke B et al. Acta Oncol 2015 Jun 22. 1-11
Reproductive Health
A study on knowledge, attitude, and practice towards premarital carrier screening among adults attending primary healthcare centers in a region in Oman.
Al-Farsi OA et al. BMC Public Health 2014 14380
Al-Farsi OA et al. BMC Public Health 2014 14380
Direct to consumer testing in reproductive contexts - should health professionals be concerned?
Skirton H et al. Life Sci Soc Policy 2015 Dec 11(1) 18
Skirton H et al. Life Sci Soc Policy 2015 Dec 11(1) 18
"Is it worth knowing?" Focus group participants' perceived utility of genomic preconception carrier screening.
Schneider JL et al. J Genet Couns 2015 Jun 21.
Schneider JL et al. J Genet Couns 2015 Jun 21.
Knowledge and attitudes toward non-invasive prenatal testing among pregnant Japanese women.
Mikamo S et al. Acta Med. Okayama 2015 Jun 69(3) 155-63
Mikamo S et al. Acta Med. Okayama 2015 Jun 69(3) 155-63
Preimplantation genetic diagnosis and natural conception: A comparison of live birth rates in patients with recurrent pregnancy loss associated with translocation.
Ikuma S et al. PLoS ONE 2015 10(6) e0129958
Ikuma S et al. PLoS ONE 2015 10(6) e0129958
Trait anxiety, information modality, and responses to communications about prenatal genetic testing.
Muller C et al. J Behav Med 2014 Oct 37(5) 988-99
Muller C et al. J Behav Med 2014 Oct 37(5) 988-99
Reviews, News and Commentaries
The big medical data miss: challenges in establishing an open medical resource.
Topol EJ et al. Nat. Rev. Genet. 2015 May 16(5) 253-4
Topol EJ et al. Nat. Rev. Genet. 2015 May 16(5) 253-4
10 things I've learned from having Lynch syndrome, by Georgia Hurst, Cure, Jun 23
by Georgia Hurst, Cure, Jun 23Can the bacteria in your gut explain your mood? By Peter Andrey Smithjune, New York Times, Jun 23
By Peter Andrey Smithjune, New York Times, Jun 23Precision oncology: Creating a genomic guide for melanoma therapy, by Dr. Francis Collins, NIH Director's Blog, Jun 23
by Dr. Francis Collins, NIH Director's Blog, Jun 23Turning spit and data into treasure, Genes to Genomes, Jun 23
Genes to Genomes, Jun 23But what does my genetic test result mean? By Professor Anneke Lucassen and Dr Emma Baple, Bio News, Jun 22
By Professor Anneke Lucassen and Dr Emma Baple, Bio News, Jun 22New genetic immunodeficiency identified, by Rebecca Burbidge, PHG Foundation, Jun 22
by Rebecca Burbidge, PHG Foundation, Jun 22 Tens of thousands of Californians give up their genetic secrets, Medical News Today, Jun 22
Medical News Today, Jun 22The genomic revolution is coming - and with it some big dilemmas, by Carwyn Hooper, The Conversation, Jun 22
by Carwyn Hooper, The Conversation, Jun 22Urban microbes come out of the shadows, by Rachel Ehrensberg, Nature News, Jun 22
by Rachel Ehrensberg, Nature News, Jun 226 realities of genomic research, by Dan Koboldt, Mass Genomics, Jun 19
by Dan Koboldt, Mass Genomics, Jun 19Overcoming drug resistance: The EGFR enigma, by Srivani Ravoori, American Association for Cancer Research, Jun 19
by Srivani Ravoori, American Association for Cancer Research, Jun 19Sports participation in Long QT syndrome: It is time for the dialogue? By Iqbal El-Assaad and Peter Aziz, American College of Cardiology, Jun 19
By Iqbal El-Assaad and Peter Aziz, American College of Cardiology, Jun 19Study demonstrates potential of new approach for sorting out BRCA1 gene variants, News Medical.net, Jun 19
News Medical.net, Jun 19Using gene expression to diagnose lung cancer more accurately, National Cancer Institute, Jun 19
National Cancer Institute, Jun 19Gov. McAuliffe announces expanded newborn screening program, NBC 29, Jun 15
NBC 29, Jun 15‘Exceptional responders’ to cancer drugs draw scrutiny from scientists, by Brady Dennis, Washington Post, Jun 13
by Brady Dennis, Washington Post, Jun 13
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