Exploring Rare Disease Patient Attitudes and Beliefs regarding Genetic Testing: Implications for Person-Centered Care
Most rare diseases are genetic in etiology and characterized by a ‘diagnostic odyssey’. Genomic advances have helped speed up the diagnosis for many rare disorders, opening new avenues for precision therapies. Little is known about patient attitudes, experiences, and beliefs about genetic testing fo...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-03-01
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| Series: | Journal of Personalized Medicine |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2075-4426/12/3/477 |
| _version_ | 1797446259077808128 |
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| author | Andrew A. Dwyer Melissa K. Uveges Samantha Dockray Neil Smith |
| author_facet | Andrew A. Dwyer Melissa K. Uveges Samantha Dockray Neil Smith |
| author_sort | Andrew A. Dwyer |
| collection | DOAJ |
| description | Most rare diseases are genetic in etiology and characterized by a ‘diagnostic odyssey’. Genomic advances have helped speed up the diagnosis for many rare disorders, opening new avenues for precision therapies. Little is known about patient attitudes, experiences, and beliefs about genetic testing for the rare disease congenital hypogonadotropic hypogonadism (CHH). Methods: We conducted six focus groups with patients with CHH (<i>n</i> = 58). Transcripts were coded by independent investigators and validated by external reviewers. Results: Major themes relating to pre-test experiences were ‘attitudes & beliefs’ (most frequently cited theme), which revealed altruism as a strong motivator for pursuing research testing and ‘information and support,’ which revealed a striking lack of pre-testing decisional support/genetic counseling. Major post-test themes included ‘return of results,’ revealing frustration with the lack of return of results and limited emotional support, and ‘family communication,’ describing challenging intrafamilial communication. Themes describing ethical concerns (i.e., privacy, use of samples) were least frequently noted and related to pre- and post-test experiences. Conclusions: Patients with CHH are highly motivated by altruism when pursuing testing but have significant unmet needs for pre-test decisional support and post-test counseling. It is regarded that patient values, beliefs and experiences can inform more person-centered approaches to genetic testing for rare diseases. |
| first_indexed | 2024-03-09T13:39:00Z |
| format | Article |
| id | doaj.art-056f4be7f3b441069b4c6a5efef91599 |
| institution | Directory Open Access Journal |
| issn | 2075-4426 |
| language | English |
| last_indexed | 2024-03-09T13:39:00Z |
| publishDate | 2022-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Personalized Medicine |
| spelling | doaj.art-056f4be7f3b441069b4c6a5efef915992023-11-30T21:09:01ZengMDPI AGJournal of Personalized Medicine2075-44262022-03-0112347710.3390/jpm12030477Exploring Rare Disease Patient Attitudes and Beliefs regarding Genetic Testing: Implications for Person-Centered CareAndrew A. Dwyer0Melissa K. Uveges1Samantha Dockray2Neil Smith3Massachusetts General Hospital—Harvard Center for Reproductive Medicine, Boston, MA 02114, USAWilliam F. Connell School of Nursing, Boston College, Chestnut Hill, MA 02467, USASchool of Applied Psychology, University College Cork, T12 YN60 Cork, IrelandHYPOHH Patient Support Group, London WD3 1FX, UKMost rare diseases are genetic in etiology and characterized by a ‘diagnostic odyssey’. Genomic advances have helped speed up the diagnosis for many rare disorders, opening new avenues for precision therapies. Little is known about patient attitudes, experiences, and beliefs about genetic testing for the rare disease congenital hypogonadotropic hypogonadism (CHH). Methods: We conducted six focus groups with patients with CHH (<i>n</i> = 58). Transcripts were coded by independent investigators and validated by external reviewers. Results: Major themes relating to pre-test experiences were ‘attitudes & beliefs’ (most frequently cited theme), which revealed altruism as a strong motivator for pursuing research testing and ‘information and support,’ which revealed a striking lack of pre-testing decisional support/genetic counseling. Major post-test themes included ‘return of results,’ revealing frustration with the lack of return of results and limited emotional support, and ‘family communication,’ describing challenging intrafamilial communication. Themes describing ethical concerns (i.e., privacy, use of samples) were least frequently noted and related to pre- and post-test experiences. Conclusions: Patients with CHH are highly motivated by altruism when pursuing testing but have significant unmet needs for pre-test decisional support and post-test counseling. It is regarded that patient values, beliefs and experiences can inform more person-centered approaches to genetic testing for rare diseases.https://www.mdpi.com/2075-4426/12/3/477decision makingethicsgenetic counselinggenetic testinghypogonadotropic hypogonadismKallmann syndrome |
| spellingShingle | Andrew A. Dwyer Melissa K. Uveges Samantha Dockray Neil Smith Exploring Rare Disease Patient Attitudes and Beliefs regarding Genetic Testing: Implications for Person-Centered Care Journal of Personalized Medicine decision making ethics genetic counseling genetic testing hypogonadotropic hypogonadism Kallmann syndrome |
| title | Exploring Rare Disease Patient Attitudes and Beliefs regarding Genetic Testing: Implications for Person-Centered Care |
| title_full | Exploring Rare Disease Patient Attitudes and Beliefs regarding Genetic Testing: Implications for Person-Centered Care |
| title_fullStr | Exploring Rare Disease Patient Attitudes and Beliefs regarding Genetic Testing: Implications for Person-Centered Care |
| title_full_unstemmed | Exploring Rare Disease Patient Attitudes and Beliefs regarding Genetic Testing: Implications for Person-Centered Care |
| title_short | Exploring Rare Disease Patient Attitudes and Beliefs regarding Genetic Testing: Implications for Person-Centered Care |
| title_sort | exploring rare disease patient attitudes and beliefs regarding genetic testing implications for person centered care |
| topic | decision making ethics genetic counseling genetic testing hypogonadotropic hypogonadism Kallmann syndrome |
| url | https://www.mdpi.com/2075-4426/12/3/477 |
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