NDLI: Discovering the Family History of Huntington Disease (HD)

Content Provider	Springer Nature Link
Author	Etchegary, Holly
Copyright Year	2006
Abstract	A considerable body of research has explored both predictive genetic test decisions for Huntington disease (HD) and the impact of receiving a test result. Extant research reveals little, however, about how and when at risk persons first discover their family history of HD. Drawing upon 24 semi-structured interviews with at risk persons and their family members, this study explored initial discovery of HD in the family. Qualitative data analysis revealed four different, though sometimes related, trajectories of discovery: (1) something is wrong, (2) out of the blue, (3) knowing, but dismissing, and 4) growing up with HD. These pathways highlighted the importance of the temporal and historical contexts in which genetic risk for HD was discovered. Notably, ignorance about HD was the most salient feature shaping participants’ narratives of discovery. Implications for research and clinical practice are discussed.
Starting Page	105
Ending Page	117
Page Count	13
File Format	PDF
ISSN	10597700
Journal	Journal of Genetic Counseling
Volume Number	15
Issue Number	2
e-ISSN	15733599
Language	English
Publisher	Springer US
Publisher Date	2006-03-16
Publisher Place	Boston
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Ethics Gynecology Clinical Psychology Public Health/Gesundheitswesen Human Genetics
Content Type	Text
Resource Type	Article
Subject	Genetics (clinical)

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

Discovering the Family History of Huntington Disease (HD)