First results from RESPOND-HD have been published about genetic discrimination and social stigma experienced by individuals drawn from those who have tested positive or negative for the expanded HD gene, and those who have positive family history, but have not gene tested. This study showed that overall a large number (46.5%) of those surveyed reported experiencing discriminatory events or stigma. However, a greater fraction (71.5%) of the tested group reported these events than the untested group (28.5%).
This type of study that measures the extent of the stigma is greatly needed. But shame on us if we stop there.
Study Description: Participants in RESPOND-HD included a total of 433 individuals from Australia, Canada and the U.S who belonged to Huntington families but had no symptoms of HD: 310 were listed as coming from PREDICT and 123 from PHAROS [Erwin C 2010]. However the grouping of individuals is complicated: those listed as coming from PREDICT included those who had tested positive or negative (PREDICT controls) but authors did not report the relative numbers based on gene test result. There was also mention of individuals (number not reported) who were recruited at an Huntington Society of America convention who were not participants in PREDICT or PHAROS, but for purposes of analysis were assigned to -- and labeled as belonging to PREDICT (tested) or PHAROS (untested) groups.
In this study which took place between 2006-2007, each participant completed a survey that asked questions about different types of discrimination that participants might have experienced over a time-frame that was not clearly defined, but was probably represented lifetime occurrences.
Results: The results (with one exception) were reported based on the entire group -- all of whom belonged to Huntington families -- whether tested or not. Authors showed that discrimination was happening at differing levels in all the types (or domains) of discrimination, with the highest reported events occurring in personal relationships:
|Personal (social relationship stigma from within or outside of family)||32.9%
|Insurance (medical, life, long-term care, disability, auto)||25.9%|
|Employment (denied jobs, fired from job, denied
|Transactional (health care providers, legal issues, housing issues, etc.)||4.6%
|Cumulative burden (any of the above reported)||46.2%|
Some individuals reported more than one type of event.
PREDICT/PHAROS Comparison Results: Reporting only the cumulative burden score for comparing the tested and untested groups: a larger fraction of tested individuals (71.5%) reported discriminatory or stigma events than untested participants (28.5%). The breakdown of types of discrimination events between groups was not reported.
Summary: RESPOND-HD is an important first study that describes what families already know: there is a lot of external discrimination and stigma that burden those born into HD families. That is the only question that this RESPOND-HD article more fully addressed. This study also strongly suggests that such events are significantly higher in those who test.
It is important to point out what this article doesn't address: Though there should be comparison data from this study, this publication does not disclose whether those who tested positive reported a differing level of discriminatory events vs those who tested negative or vs untested. Hopefully these important issues will be addressed in future articles.
Comments: Alice Wexler, in her elegant article "Stigma, History and Huntington's Disease quoted a statement made by an HD family member in testimony given before Congress in 1977: "If I had one wish it would be to take away the stigma of Huntington's disease and take it out of the closet"[Wexler A 2010]. And now decades later, stigma - and the closet -- continue to be huge intertwined problems that damage many in HD families, whether by symptoms or as family member of the affected person.
And now in 2011, stigma also imposes another major threat to Huntington families: attaining effective treatments for HD. Why? Stigma keeps HD families in the closet - and out of clinical trials. So for this and coming generations, it is even more important to break this vicious cycle of HD stigma. It is time to learn more about what causes stigma, and why it is so high in HD. Just reporting that stigma exists is not enough, and shame on us if we don't work to change it.
Erwin C, Williams JK, Juhl AR, Mengeling M, Mills JA, Bombard Y, Hayden MR, Quaid K, Shoulson I, Taylor S, Paulsen JS; I-RESPOND-HD Investigators of the Huntington Study Group. Perception, experience, and response to genetic discrimination in Huntington disease: the international RESPOND-HD study. Am J Med Genet B Neuropsychiatr Genet. 2010 Jul;153B(5):1081-93. doi: 10.1002/ajmg.b.31079. PubMed abstract
Wexler A. Stigma, history, and Huntington's disease. Lancet. 2010 Jul 3;376(9734):18-9. PubMed abstract