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Showing 1 to 12 of 714 entries
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Readability of informed consent forms for whole-exome and whole-genome sequencing.

Journal of community genetics

Niemiec E, Vears DF, Borry P, Howard HC.
PMID: 28856579
J Community Genet. 2018 Apr;9(2):143-151. doi: 10.1007/s12687-017-0324-6. Epub 2017 Aug 31.

Whole-exome and whole-genome sequencing (WES, WGS) can generate an unprecedented amount of complex information, making the informed consent (IC) process challenging. The aim of our study was to assess the readability of English IC forms for clinical whole-exome and...

Rural Mexican-Americans' perceptions of family health history, genetics, and disease risk: implications for disparities-focused research dissemination.

Journal of community genetics

Malen R, Knerr S, Delgado F, Fullerton SM, Thompson B.
PMID: 26141228
J Community Genet. 2016 Jan;7(1):91-6. doi: 10.1007/s12687-015-0245-1. Epub 2015 Jul 04.

Disseminating the results of transdisciplinary health disparities research will increasingly involve discussing family health history and/or genetic information with study participants and their communities. Often, individuals' familiarity and comfort with these topics will be unclear. To inform the dissemination...

Prevention of sickle cell disease: observations on females with the sickle cell trait from the Manchester project, Jamaica.

Journal of community genetics

Mason K, Gibson F, Gardner RA, Serjeant B, Serjeant GR.
PMID: 26630875
J Community Genet. 2016 Apr;7(2):127-32. doi: 10.1007/s12687-015-0258-9. Epub 2015 Dec 02.

Screening for haemoglobin genotype was offered to senior school students in Manchester parish in south central Jamaica to test whether this knowledge would influence choice of partner and reduce births with sickle cell disease. Over six academic years, 15,539...

Opinions of hearing parents about the causes of hearing impairment of their children with biallelic GJB2 mutations.

Journal of community genetics

Solovyev AV, Dzhemileva LU, Posukh OL, Barashkov NA, Bady-Khoo MS, Lobov SL, Popova NY, Romanov GP, Sazonov NN, Bondar AA, Morozov IV, Tomsky MI, Fedorova SA, Khusnutdinova EK.
PMID: 28324246
J Community Genet. 2017 Jul;8(3):167-171. doi: 10.1007/s12687-017-0299-3. Epub 2017 Mar 21.

Hereditary hearing impairment (HI) caused by recessive GJB2 mutations is a frequent sensory disorder. The results of the molecular-based studies of HI are widely used in various genetic test systems. However, the ethical aspects are less described than the...

Consenting postpartum women for use of routinely collected biospecimens and/or future biospecimen collection.

Journal of community genetics

Kozinetz CA, Royse K, Graham SC, Yu X, Moye J, Selwyn BJ, Forman MR, Caviness C.
PMID: 26869364
J Community Genet. 2016 Apr;7(2):153-8. doi: 10.1007/s12687-016-0261-9. Epub 2016 Feb 11.

The National Children's Study (NCS) Harris County, Texas Study Center participated in the NCS Provider Based Sampling (PBS) substudy of the NCS Vanguard Phase pilot. As part of the hospital-based birth cohort component of the PBS substudy, we conducted...

"It gives them more options": preferences for preconception genetic carrier screening for fragile X syndrome in primary healthcare.

Journal of community genetics

Archibald AD, Hickerton CL, Wake SA, Jaques AM, Cohen J, Metcalfe SA.
PMID: 26842720
J Community Genet. 2016 Apr;7(2):159-71. doi: 10.1007/s12687-016-0262-8. Epub 2016 Feb 03.

This study aims to explore stakeholder views about offering population-based genetic carrier screening for fragile X syndrome. A qualitative study using interviews and focus groups with stakeholders was undertaken to allow for an in-depth exploration of views and perceptions...

Exploring Asian Indian and Pakistani views about cancer and participation in cancer genetics research: toward the development of a community genetics intervention.

Journal of community genetics

Leader AE, Mohanty S, Selvan P, Lum R, Giri VN.
PMID: 28660599
J Community Genet. 2018 Jan;9(1):27-35. doi: 10.1007/s12687-017-0312-x. Epub 2017 Jun 28.

Cancer is a leading cause of mortality among the three million Asian Indian/Pakistanis (AIPs) in the USA. AIPs have traditionally been underrepresented in cancer-related research, although reasons remain largely unexplored. We sought to understand AIP's awareness and perceptions of...

Great expectations: patient perspectives and anticipated utility of non-diagnostic genomic-sequencing results.

Journal of community genetics

Hylind R, Smith M, Rasmussen-Torvik L, Aufox S.
PMID: 28656483
J Community Genet. 2018 Jan;9(1):19-26. doi: 10.1007/s12687-017-0314-8. Epub 2017 Jun 27.

The management of secondary findings is a challenge to health-care providers relaying clinical genomic-sequencing results to patients. Understanding patients' expectations from non-diagnostic genomic sequencing could help guide this management. This study interviewed 14 individuals enrolled in the eMERGE (Electronic...

Cancer risk communication, predictive testing and management in France, Germany, the Netherlands and the UK: general practitioners' and breast surgeons' current practice and preferred practice responsibilities.

Journal of community genetics

Nippert I, Julian-Reynier C, Harris H, Evans G, van Asperen CJ, Tibben A, Schmidtke J.
PMID: 24297247
J Community Genet. 2014 Jan;5(1):69-79. doi: 10.1007/s12687-013-0173-x. Epub 2013 Dec 03.

Genetic testing has its greatest public health value when it identifies individuals who will benefit from specific interventions based upon their risk. This paradigm is the basis for the use of predictive tests, such as BRCA1/BRCA2 testing which has...

Public health approach to birth defects: the Argentine experience.

Journal of community genetics

Bidondo MP, Groisman B, Barbero P, Liascovich R.
PMID: 25564015
J Community Genet. 2015 Apr;6(2):147-56. doi: 10.1007/s12687-014-0209-x. Epub 2015 Jan 07.

Birth defects are a global problem, but their impact is particularly severe in low and middle income countries, where the conditions for prevention, treatment, and rehabilitation are more critical. The epidemiological transition in the infant mortality causes, and the...

Genetics in primary health care and the National Policy on Comprehensive Care for People with Rare Diseases in Brazil: opportunities and challenges for professional education.

Journal of community genetics

Melo DG, de Paula PK, de Araujo Rodrigues S, da Silva de Avó LR, Germano CM, Demarzo MM.
PMID: 25893505
J Community Genet. 2015 Jul;6(3):231-40. doi: 10.1007/s12687-015-0224-6. Epub 2015 Apr 18.

As discoveries regarding the genetic contribution to disease have grown rapidly, health care professionals are expected to incorporate genetic and genomic perspectives into health education and practice. Genetic competencies common to all health professionals have been identified by the...

Incidental findings from clinical sequencing in Greece: reporting experts' attitudes.

Journal of community genetics

Gourna EG, Armstrong N, Wallace SE.
PMID: 25048384
J Community Genet. 2014 Oct;5(4):383-93. doi: 10.1007/s12687-014-0194-0. Epub 2014 Jul 22.

Unprecedented progress in sequencing technologies and decreasing cost have brought genomic testing into the clinical setting. At the same time, the debate in the literature concerning the return of incidental findings (IFs) has made this an important issue internationally....

Showing 1 to 12 of 714 entries