Disclosure of Genetic Research Results to Members of a Founder Population

Abstract

There is currently extensive discussion and debate in the literature on how, when, and to whom genetic research results should be returned (see Genetics in Medicine, April 2012 issue). Here, we describe our experience in disclosing genetic information on Mendelian disorders discovered during the course of our research in the Hutterites. We first assessed attitudes toward the disclosure of carrier results, which revealed that many individuals wanted carrier information and that many intended to use the information in family planning. Based on this information, we developed a pilot study to test and disclose cystic fibrosis (CF) carrier status. Next, a larger scale project was developed in order to disclose genetic research results for 14 diseases to those interested in receiving the information. We developed brochures, offered a live interactive educational program, conducted a consent process, and disclosed results in letters mailed to the consented individuals. Overall, ∼80% of individuals who participated in the educational program signed consent forms for the release of their results for 14 diseases. We describe our experience with returning individual genetic research results to participants in a population-based research study.

“If It Helps, It's Worth a Try”: an Investigation of Perceptions and Attitudes about Genetic Counseling among Southern Manitoba Hutterites

“…Over 80% of the sample indicated there were circumstances in which they would use genetic counseling services, compared to only about half of Riesgraf et al's (2015) sample. Prior studies of Hutterites have focused on uptake of genetic testing and found fairly substantial rates of uptake of carrier genetic testing (Anderson et al 2014). These rates are higher than in studies of the general population, which found only a modest association between intention to test and actual uptake (Creighton et al 2003;McBride et al 2009).…”

“…This difference may be related to the Hutterites being a more genetically isolated cultural group with a higher prevalence of genetic disease and/or it reflects their pragmatic approach to genetic concerns. Previous research on genetic testing in Hutterite populations identified an overall favorable attitude for carrier testing and the use of information for family planning (Anderson et al 2014;Miller and Schwartz 1992). As a majority of the sample believed genetic counselors require people to have genetic tests, and past attitudes about testing have been favorable, attitudes about genetic counseling may partly reflect attitudes about genetic testing.…”

“…Yet only a few studies have explored the public's familiarity with and views of genetic counseling services (Maio et al 2013;Riesgraf et al 2015). Moreover, little research investigating these issues has been conducted on founder populations with high prevalence of genetic disease, such as the Amish, Mennonites, and Hutterites (Anderson et al 2014;Brensinger and Laxova 1995;Miller and Schwartz Electronic supplementary material The online version of this article (doi:10.1007/s10897-017-0121-8) contains supplementary material, which is available to authorized users.…”

“…Recently, Anderson et al (2014) assessed South Dakota Hutterites' attitudes about CF carrier testing, conducted a pilot study of CF result disclosure, and implemented an educational session on genetic diseases in Hutterites, followed by an invitation to receive disclosure of results for 14 recessive conditions. During face-to-face, individual interviews 41% of the 86 individuals indicated they wanted to know their CF carrier status.…”

“…The few studies of public perceptions and attitudes about genetic services among genetic isolate populations have focused on genetic testing (Anderson et al 2014;Brensinger and Laxova 1995;Miller and Schwartz 1992). No studies to date have explored Hutterites' familiarity, perceptions and attitudes regarding genetic counseling and their hypothetical willingness to use these services.…”