Just a generation ago, Huntington's was the elephant in the closet. But not so this generation -- stories of HD are everywhere, in newspapers and on television. Prominent among these media stories are Katie Moser's eloquent and personal story on the front page of the Sunday New York Times, and a fictional story on Fox TV's House M.D. In both of these narratives, and in the public response, the focus has been on gene testing for the at risk population. In this article, Dr. Goodman wonders how this public debate affects those who must make very private and painful decisions.
Before discovery of the Huntington's gene, the vast majority of at risk individuals said they would test. And an even greater percentage of the not-at-risk public, responding to media events were sure they would test too. Then why is it that only 15% of known at risk individuals choose to be tested [Creighton S 2003] now that gene testing is available?
Why At Risk Individuals Don't Test: Though I believe Huntington's families "know" why, we have trouble articulating it, even to ourselves. So I was pleased to see the recent article, "Living at Risk: Concealing Risk and Preserving Hope in Huntington Disease [Quaid KA 2008]." Dr. Quaid and collaborators describe the real-life reasons given by 37 people who are participating in the Prospective Huntington At Risk Observational Study (PHAROS). In addition to individual stories, the authors describe patterns and thought processes that are shared by most of this select group who clearly aren't denying their risk (or they wouldn't have been in this trial), but consciously and deliberately choose not to test.
The authors' conclusions? For this group, they found that careful concealment of at risk status is first an act of self preservation, and second a way of preserving hope.
Only One of Many Decisions: Well known to Huntington's families, the authors conclude that gene testing is just one in a long list of other at risk decisions. Participants reported the unending and daily self-debate about many other real life situations -- whether and when it is safe to tell people they are dating, children, friends, employers, insurers, doctors, etc. about risk. Indeed, several of the participants told of negative consequences when revealing their at risk status (either their own or a family member) that included loss of valued and cherished relationships, fewer job prospects and lack of career advancement, refusal of medical benefits, and refusal for disability and life insurance. For many of these participants, concealment of risk status was an act of self preservation. They feared that gene status would increase acts of genetic discrimination.
Hope and Fear: The authors also describe that these participants choose not to gene test because they fear that testing will deprive them of hope for the future. Many believed that certainty of a gene positive status would leave them no room for hope, and that uncertainty leaves space for hope. One participant told the story of a relative who had emphasized the importance of hope in a suicide note; "He said that there's such a big difference between living with hope and living with knowledge".
Comments: This study was limited to individuals who have chosen not to test. There are other studies that suggest gene testing can have positive [Duncan RE 2007] or mixed [Larsson MU 2006] results; but in either case often results in genetic discrimination [Penziner E 2008] [Bombard Y 2008]. The decision to test or not is very far from being as simple as the public's bias and "moral" judgement implies.
There are some within the Huntington's community who believe that it is more courageous to test. The reality is that it takes great courage just to live at risk for Huntington's, whether a person tests or not. In my opinion one group is not more, or less courageous than the other. To test or not to test is, and should remain a personal decision made without coercion, judgement, or pressures from family, doctors, researchers and others within the Huntington's community, or from the public.
While we shouldn't keep the HD elephant in the closet; there are times when it may not be best, at least for some, to put it in the picture window.
Creighton S, Almqvist EW, MacGregor D, Fernandez B, Hogg H, Beis J, Welch JP, Riddell C, Lokkesmoe R, Khalifa M, MacKenzie J, Sajoo A, Farrell S, Robert F, Shugar A, Summers A, Meschino W, Allingham-Hawkins D, Chiu T, Hunter A, Allanson J, Hare H, Schween J, Collins L, Sanders S, Greenberg C, Cardwell S, Lemire E, MacLeod P, Hayden MR. Predictive, pre-natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000. Clin Genet. 2003 Jun;63(6):462-75. PubMed abstract
Quaid KA, Sims SL, Swenson MM, Harrison JM, Moskowitz C, Stepanov N, Suter GW, Westphal BJ. Living at risk: concealing risk and preserving hope in Huntington disease. J Genet Couns. 2008 Feb;17(1):117-28. Epub 2007 Oct 18. PubMed abstract
Duncan RE, Gillam L, Savulescu J, Williamson R, Rogers JG, Delatycki MB. "Holding your breath": interviews with young people who have undergone predictive genetic testing for Huntington disease. Am J Med Genet A. 2007 Sep 1;143A(17):1984-9. PubMed abstract
Larsson MU, Luszcz MA, Bui TH, Wahlin TB. Depression and suicidal ideation after predictive testing for Huntington's disease: a two-year follow-up study. J Genet Couns. 2006 Oct;15(5):361-74. PubMed abstract
Penziner E, Williams JK, Erwin C, Bombard Y, Wallis A, Beglinger LJ, Hayden MR, Paulsen JS. Perceptions of discrimination among persons who have undergone predictive testing for Huntington's disease. Am J Med Genet B Neuropsychiatr Genet. 2008 Apr 5;147(3):320-5. PubMed abstract
Bombard Y, Penziner E, Suchowersky O, Guttman M, Paulsen JS, Bottorff JL, Hayden MR. Engagement with genetic discrimination: concerns and experiences in the context of Huntington disease. Eur J Hum Genet. 2008 Mar;16(3):279-89. Epub 2007 Oct 24. PubMed abstract