Published on 07/17/2015
Human Genomics across the Lifespan
Birth Defects and Child Health
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eHealth Services for the European Reference Network on Rare Anaemias (eENERCA).
Antoniou Zinonas et al. Stud Health Technol Inform 2015 213153-6 -
Genetic Testing for Developmental Disabilities, Intellectual Disability, and Autism Spectrum Disorder
Rockville (MD):Agency for Healthcare Research and Quality (US) 2015 Jun -
Survey of the actual state of medical care of patients with Duchenne muscular dystrophy in Japan.
Matsumura Tsuyoshi et al. Rinsho Shinkeigaku 2015 Jul 7. -
Impact of a Comprehensive Sickle Cell Center on Early Childhood Mortality in a Developing Country: The Jamaican Experience.
King Lesley G C et al. J. Pediatr. 2015 Jul 7. -
Trends in Unmet Need for Genetic Counseling Among Children With Special Health Care Needs, 2001-2010.
Smith Anna Jo et al. Acad Pediatr 2015 Jul 7.
Cancer
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Prevalence and correlates of receiving and sharing high-penetrance cancer genetic test results: findings from the Health Information National Trends Survey.
Taber Jennifer M et al. Public Health Genomics 2015 18(2) 67-77 -
Understanding next generation sequencing in oncology: A guide for oncologists.
Moorcraft Sing Yu et al. Crit. Rev. Oncol. Hematol. 2015 Jun 29. -
MethPed: a DNA methylation classifier tool for the identification of pediatric brain tumor subtypes.
Danielsson Anna et al. Clin Epigenetics 2015 7(1) 62
Chronic Disease
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EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH).
Porto Graça et al. Eur. J. Hum. Genet. 2015 Jul 8. -
Development of a blood-based molecular biomarker test for identification of schizophrenia before disease onset.
Chan M K et al. Transl Psychiatry 5e601
Ethics/Policy/Law
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Human Genome Editing and Ethical Considerations.
Krishan Kewal et al. Sci Eng Ethics 2015 Jul 8. -
Drifting Away from Informed Consent in the Era of Personalized Medicine.
Parens Erik et al. Hastings Cent Rep 2015 Jul 45(4) 16-20 -
Fair Shares and Sharing Fairly: A Survey of Public Views on Open Science, Informed Consent and Participatory Research in Biobanking.
Joly Yann et al. PLoS ONE 2015 10(7) e0129893 -
The Equal Employment Opportunity Commission Proposal and the Genetic Information Nondiscrimination Act.
Kerstein Brett et al. Genet Test Mol Biomarkers 2015 Jul 19(7) 345-346 -
When Should Genome Researchers Disclose Misattributed Pahentage?
Mandava Amulya et al. Hastings Cent Rep 2015 Jul 45(4) 28-36
Practice
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How to build personalized multi-omics comorbidity profiles.
Moni Mohammad Ali et al. Front Cell Dev Biol 2015 328 -
The need to develop an evidence base for genetic counselling in Europe.
McAllister Marion, et al. European journal of human genetics : EJHG 2016 4 0. (4) 504-5 -
Good laboratory practice for clinical next-generation sequencing informatics pipelines.
Gargis Amy S et al. Nat. Biotechnol. 2015 Jul 8. 33(7) 689-93 -
A one-page summary report of genome sequencing for the healthy adult.
Vassy Jason L et al. Public Health Genomics 2015 18(2) 123-9 -
An Exploratory Study of Employers' Attitudes Towards a Clinical Doctorate in Genetic Counseling.
Valverde Kathleen et al. J Genet Couns 2015 Jul 14. -
Impact of presymptomatic genetic testing on young adults: a systematic review.
Godino Lea, et al. European journal of human genetics : EJHG 2016 4 0. (4) 496-503 -
Telegenetics use in presymptomatic genetic counselling: patient evaluations on satisfaction and quality of care.
Otten Ellen, et al. European journal of human genetics : EJHG 2016 4 0. (4) 513-20 -
Significance and reporting of incidental findings concerning family medical history.
Nurmsoo Sean et al. Am. J. Med. Genet. A 2015 Jul 14.
Newborn Screening
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Cost-Effectiveness Analysis of a National Newborn Screening Program for Biotinidase Deficiency.
Vallejo-Torres Laura et al. Pediatrics 2015 Jul 13. -
Public Perceptions of the Benefits and Risks of Newborn Screening.
Miller Fiona A et al. Pediatrics 2015 Jul 13. -
While on the Way to Universal Newborn Screening for Severe Combined Immunodeficiency Disease.
Bonagura Vincent Robert et al. J Allergy Clin Immunol Pract 3(4) 592-3
Reproductive Health
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Noninvasive Prenatal Testing and Detection of Maternal Cancer.
Romero Roberto et al. JAMA 2015 Jul 14. 314(2) 131-133 -
Noninvasive Prenatal Testing.
Thompson Amy E et al. JAMA 2015 Jul 14. 314(2) 198 -
Noninvasive Prenatal Testing and Incidental Detection of Occult Maternal Malignancies.
Bianchi Diana W et al. JAMA 2015 Jul 14. 314(2) 162-169 -
Knowledge, Attitude and Practice of Carrier Thalassemia Marriage Volunteer in Prevention of Major Thalassemia.
Karimzaei Tahmineh et al. Glob J Health Sci 2015 Sep 7(5) 49815 -
First-trimester combined screening for trisomy 21 in women at risk for α-thalassemia.
Zhen Li et al. J. Matern. Fetal. Neonatal. Med. 2015 Jul 14. 1-11 -
Technical Update: Preimplantation Genetic Diagnosis and Screening.
Dahdouh Elias M et al. J Obstet Gynaecol Can 2015 May 37(5) 451-63 -
An Economic Analysis of Cell-Free DNA Non-Invasive Prenatal Testing in the US General Pregnancy Population.
Benn Peter et al. PLoS ONE 2015 10(7) e0132313
News/ Reviews/Comments
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Hannah's hair - why traits matter,
by Ricki Lewis, DNA Science PLoS Blog, Jul 9 -
White House gets more precise about precision medicine,
by Robert Lowes, Medscape, Jul 9 [by free subscription only] -
FACT SHEET: New Patient-Focused Commitments to Advance the PresidentÂ’s Precision Medicine Initiative,
the White House, Jul 8 -
Gene therapy a potential answer for hereditary deafness,
by Rebecca Burbidge, PHG Foundation, Jul 14 -
Searching for the human genetic factors standing in the way of universally effective vaccines.
Mentzer Alexander J et al. Philos. Trans. R. Soc. Lond., B, Biol. Sci. 2015 Jun 19. 370(1671) -
Data analysis: Create a cloud commons.
Stein Lincoln D et al. Nature 2015 Jul 9. 523(7559) 149-51 -
ACMG Provides Recommendations on Genetic Testing Through the Choosing Wisely® Campaign
ACMG in Action, Jul 10