Risk perception before and after presymptomatic genetic testing for Huntington's disease: Not always what one might expect

Kelsey Stuttgen, Rachel Dvoskin, Juli Bollinger, Allison McCague, Barnett Shpritz, Jason Brandt, Debra J Mathews

Research output: Contribution to journalArticle

Abstract

Background: In 1983, Huntington's disease (HD) was the first genetic disease mapped using DNA polymorphisms. Shortly thereafter, presymptomatic genetic testing for HD began in the context of two research studies. One of these trials was at the Johns Hopkins University Huntington's Disease Center. Methods: As part of the protocol, risk perception (RP) values were collected at 16 time points before and after testing. The current study investigated changes in RP scores before and after genetic testing. Of the 186 participants with pre- and post-testing RP values, 39 also had contemporaneous research clinic notes and recent semi-structured interviews available for analysis. Results: The data reveal tremendous diversity in RP. While the RP scores of most individuals change in the way one would expect, 27% of participants demonstrated unexpected changes in RP after disclosure. A significantly higher proportion of individuals who received an expanded repeat result had unexpected changes in RP, compared with those who received normal repeat results. Conclusions: The data suggest that individuals’ RP is influenced by more than merely the results of genetic testing. This finding is important for genetic counselors and healthcare providers, as it suggests that even comprehensive patient education and disclosure of genetic test results may not ensure that people fully appreciate their disease risk.

Original languageEnglish (US)
JournalMolecular Genetics and Genomic Medicine
DOIs
StateAccepted/In press - Jan 1 2018

Fingerprint

Huntington Disease
Genetic Testing
Disclosure
Inborn Genetic Diseases
Patient Education
Research
Health Personnel
Interviews
DNA

Keywords

  • genetic counseling
  • genetic testing
  • Huntington’s disease
  • risk perception

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Cite this

Risk perception before and after presymptomatic genetic testing for Huntington's disease : Not always what one might expect. / Stuttgen, Kelsey; Dvoskin, Rachel; Bollinger, Juli; McCague, Allison; Shpritz, Barnett; Brandt, Jason; Mathews, Debra J.

In: Molecular Genetics and Genomic Medicine, 01.01.2018.

Research output: Contribution to journalArticle

@article{2abb542dc2f34f3ab21e9164c1075360,
title = "Risk perception before and after presymptomatic genetic testing for Huntington's disease: Not always what one might expect",
abstract = "Background: In 1983, Huntington's disease (HD) was the first genetic disease mapped using DNA polymorphisms. Shortly thereafter, presymptomatic genetic testing for HD began in the context of two research studies. One of these trials was at the Johns Hopkins University Huntington's Disease Center. Methods: As part of the protocol, risk perception (RP) values were collected at 16 time points before and after testing. The current study investigated changes in RP scores before and after genetic testing. Of the 186 participants with pre- and post-testing RP values, 39 also had contemporaneous research clinic notes and recent semi-structured interviews available for analysis. Results: The data reveal tremendous diversity in RP. While the RP scores of most individuals change in the way one would expect, 27{\%} of participants demonstrated unexpected changes in RP after disclosure. A significantly higher proportion of individuals who received an expanded repeat result had unexpected changes in RP, compared with those who received normal repeat results. Conclusions: The data suggest that individuals’ RP is influenced by more than merely the results of genetic testing. This finding is important for genetic counselors and healthcare providers, as it suggests that even comprehensive patient education and disclosure of genetic test results may not ensure that people fully appreciate their disease risk.",
keywords = "genetic counseling, genetic testing, Huntington’s disease, risk perception",
author = "Kelsey Stuttgen and Rachel Dvoskin and Juli Bollinger and Allison McCague and Barnett Shpritz and Jason Brandt and Mathews, {Debra J}",
year = "2018",
month = "1",
day = "1",
doi = "10.1002/mgg3.494",
language = "English (US)",
journal = "Molecular genetics & genomic medicine",
issn = "2324-9269",
publisher = "John Wiley and Sons Inc.",

}

TY - JOUR

T1 - Risk perception before and after presymptomatic genetic testing for Huntington's disease

T2 - Not always what one might expect

AU - Stuttgen, Kelsey

AU - Dvoskin, Rachel

AU - Bollinger, Juli

AU - McCague, Allison

AU - Shpritz, Barnett

AU - Brandt, Jason

AU - Mathews, Debra J

PY - 2018/1/1

Y1 - 2018/1/1

N2 - Background: In 1983, Huntington's disease (HD) was the first genetic disease mapped using DNA polymorphisms. Shortly thereafter, presymptomatic genetic testing for HD began in the context of two research studies. One of these trials was at the Johns Hopkins University Huntington's Disease Center. Methods: As part of the protocol, risk perception (RP) values were collected at 16 time points before and after testing. The current study investigated changes in RP scores before and after genetic testing. Of the 186 participants with pre- and post-testing RP values, 39 also had contemporaneous research clinic notes and recent semi-structured interviews available for analysis. Results: The data reveal tremendous diversity in RP. While the RP scores of most individuals change in the way one would expect, 27% of participants demonstrated unexpected changes in RP after disclosure. A significantly higher proportion of individuals who received an expanded repeat result had unexpected changes in RP, compared with those who received normal repeat results. Conclusions: The data suggest that individuals’ RP is influenced by more than merely the results of genetic testing. This finding is important for genetic counselors and healthcare providers, as it suggests that even comprehensive patient education and disclosure of genetic test results may not ensure that people fully appreciate their disease risk.

AB - Background: In 1983, Huntington's disease (HD) was the first genetic disease mapped using DNA polymorphisms. Shortly thereafter, presymptomatic genetic testing for HD began in the context of two research studies. One of these trials was at the Johns Hopkins University Huntington's Disease Center. Methods: As part of the protocol, risk perception (RP) values were collected at 16 time points before and after testing. The current study investigated changes in RP scores before and after genetic testing. Of the 186 participants with pre- and post-testing RP values, 39 also had contemporaneous research clinic notes and recent semi-structured interviews available for analysis. Results: The data reveal tremendous diversity in RP. While the RP scores of most individuals change in the way one would expect, 27% of participants demonstrated unexpected changes in RP after disclosure. A significantly higher proportion of individuals who received an expanded repeat result had unexpected changes in RP, compared with those who received normal repeat results. Conclusions: The data suggest that individuals’ RP is influenced by more than merely the results of genetic testing. This finding is important for genetic counselors and healthcare providers, as it suggests that even comprehensive patient education and disclosure of genetic test results may not ensure that people fully appreciate their disease risk.

KW - genetic counseling

KW - genetic testing

KW - Huntington’s disease

KW - risk perception

UR - http://www.scopus.com/inward/record.url?scp=85056144725&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85056144725&partnerID=8YFLogxK

U2 - 10.1002/mgg3.494

DO - 10.1002/mgg3.494

M3 - Article

C2 - 30393972

AN - SCOPUS:85056144725

JO - Molecular genetics & genomic medicine

JF - Molecular genetics & genomic medicine

SN - 2324-9269

ER -