Journal of Community Genetics
Papers 429
1 page of 43 pages (429 results)
Kristin E. Clift2
Estimated H-index: 2
(Mayo Clinic),
Sarah Macklin3
Estimated H-index: 3
(Mayo Clinic)
+ -3 AuthorsStephanie L. Hines9
Estimated H-index: 9
(Mayo Clinic)
As genomic sequencing expands into more areas of patient care, an increasing number of patients learn of the variants of uncertain significance (VUSs) that they carry. Understanding the potential psychosocial consequences of the disclosure of a VUS can help inform pre- and post-test counseling discussions. Medical uncertainty in general elicits a variety of responses from patients, particularly in the growing field of medical genetics and genomics. It is important to consider patients’ responses...
Erika Kleiderman5
Estimated H-index: 5
(McGill University),
Ian Stedman (York University)
Human germline genome editing may prove to be especially poignant for members of the rare disease community, many of whom are diagnosed with monogenic diseases. This community lacks broad representation in the literature surrounding genome editing, notably in Canada, yet is likely to be directly affected by eventual clinical applications of this technology. Although not generalizable, the literature does offer some commonalities regarding the experiences of rare disease patients. This manuscript...
Sarah Singer (BGU: Ben-Gurion University of the Negev), Nadav Davidovitch19
Estimated H-index: 19
(BGU: Ben-Gurion University of the Negev)
+ -3 AuthorsNaim Abu Freha (BGU: Ben-Gurion University of the Negev)
Arab Bedouins (AB) in Israel are traditionally a semi-nomadic population. Their average birth rate is extremely high (birth rate of 5.43, as well is their high consanguinity rate (44%), despite having decreased from 60% in 1992. Additionally, their mean inbreeding coefficient is 0.0238.The high rate of consanguinity results in a high prevalence of recessive genetic and multifactorial disorders as well as high infant mortality rate (11 per 1000 live births). Various genetic diseases are prevalent...
Published on Jan 1, 2019in Journal of Community Genetics
Anne Brédart27
Estimated H-index: 27
(Curie Institute),
Jean-Luc Kop7
Estimated H-index: 7
(University of Lorraine)
+ 11 AuthorsKerstin Rhiem25
Estimated H-index: 25
(University of Cologne)
The BOADICEA breast cancer (BC) risk assessment model and its associated Web Application v3 (BWA) tool are being extended to incorporate additional genetic and non-genetic BC risk factors. From an online survey through the BOADICEA website and UK, Dutch, French and Swedish national genetic societies, we explored the relationships between the usage frequencies of the BWA and six other common BC risk assessment tools and respondents’ perceived importance of BC risk factors. Respondents (N = 443) v...
Published on Jul 16, 2019in Journal of Community Genetics
M Cupp , Mary Adams (St Thomas' Hospital)+ 8 AuthorsIram Shazia Mirza
Consanguineous unions are relationships between blood relatives. This study explores the perceptions of consanguineous unions and risk of childhood disability and illness through the reported views and experiences of women in an ethnically diverse London community. This qualitative study utilised group discussions to elicit women’s views and experiences. Field notes were recorded by independent note-takers in four group discussions. Field notes were coded manually and independently by two resear...
Published on Jul 5, 2019in Journal of Community Genetics
Deirdre Weymann1
Estimated H-index: 1
Nick Dragojlovic4
Estimated H-index: 4
(UBC: University of British Columbia)
+ 1 AuthorsDean A. Regier15
Estimated H-index: 15
(UBC: University of British Columbia)
Precision medicine (PM) informed by next-generation sequencing (NGS) poses challenges for health technology assessment (HTA). To date, there has been limited reimbursement of genomic testing with NGS in Canada, particularly for whole-genome and whole-exome sequencing (WGS/WES). Through a structured literature review, we examine Canadian economic evidence and evidentiary challenges for the adoption of genomic testing. We searched Medline (PubMed) for published Canadian studies generating economic...
Published on Jul 2, 2019in Journal of Community Genetics
Caitlin G. Allen4
Estimated H-index: 4
(Emory University),
Debra Duquette12
Estimated H-index: 12
(NU: Northwestern University)
+ 1 AuthorsColleen M. McBride53
Estimated H-index: 53
(Emory University)
Uptake of community-facing family health history (FHH) tools to identify those at highest risk of disease and target prevention efforts has been consistently low. This review uses the diffusion of innovations (DOI) as a framework to organize the FHH evidence base and identify potential strategies to improve uptake of community-facing FHH tools. Methods for this literature review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines. We completed systematic se...
Published on Nov 21, 2018in Journal of Community Genetics
Elizabeth Dicks22
Estimated H-index: 22
(MUN: Memorial University of Newfoundland),
Daryl Pullman12
Estimated H-index: 12
(MUN: Memorial University of Newfoundland)
+ 3 AuthorsHolly Etchegary15
Estimated H-index: 15
(MUN: Memorial University of Newfoundland)
Universal screening of all newly diagnosed colorectal cancer tumors can identify individuals at high risk for Lynch syndrome (LS), a hereditary cancer syndrome predisposing carriers to increased risk of colorectal, endometrial, and other cancers. To inform planning of a universal tumor screening program for LS in our jurisdiction, we undertook online surveys of Canadian pathologists and genetic counselors to describe existing tumor screening programs. Online surveys were hosted on SurveyMonkey b...
Published on Jan 30, 2019in Journal of Community Genetics
Lisa Dirks1
Estimated H-index: 1
(Southcentral Foundation),
Jennifer L. Shaw4
Estimated H-index: 4
(Southcentral Foundation)
+ 3 AuthorsDenise A. Dillard10
Estimated H-index: 10
(Southcentral Foundation)
Precision medicine initiatives, such as Cancer Breakthrough 2020, promise to improve cancer outcomes by tailoring treatment to an individual’s genes, environment, and lifestyle. This promise will fall short unless researchers successfully engage diverse communities, including those with histories of medical and research abuse. We examined a rural Alaska Native community’s viewpoints about biospecimen collection and storage; interest and recall in reporting family health history; and interest and...