Do you really want to know? This was the question presented in the award-winning documentary of the same title, and to the panel in a discussion that followed its recent screening by Genetic Alliance UK. The event was chaired by former NBC News war correspondent Charles Sabine, who was joined on the panel by Rachel Jeffares, SWAN UK Representative, and Georgina Hall, Consultant Genetic Counsellor from Manchester Centre for Genomic Medicine.
The documentary's subject is Huntington’s disease (HD), an inherited neurological disorder which leads to brain cell degeneration and physical and cognitive deterioration. The documentary not only presented a harrowing insight into what it is like to live with HD but also the effect it has on family life and family planning.
Dr Jeff Carroll is a carrier of HD, who having received his test results, asks for a job working in the research lab that diagnosed him. Dr John Roder is a renowned researcher of schizophrenia and brain illness, who continues to work a full work week at 65 years of age, despite having displayed HD symptoms for over ten years. Meanwhile, Theresa Monahan’s story reflects on her negative test results, and the impact this has on her family life, with six other potential carriers among her siblings.
A prominent theme throughout the documentary is guilt. This was mirrored in the panel discussion by Rachel Jeffares of SWAN UK, whose son tested positive for an x-linked chromosome disease, ATR-X, after years of searching for the answer to his health problems. For Rachel, she felt guilty for not knowing she carried the gene which was passed to her son.
In relation to testing for HD, there were mixed attitudes and opinions. Dr Carroll in the film, for example, believes that more people should be tested and those that test positive should be willing to participate in clinical trials. Reflecting on his experience of receiving test results, he talks about the surreal feeling following receiving a positive result. The contrast between the calmness of the surroundings with the inner turmoil of the positive result was most striking: Dr Carroll comments how everything around him remained the same, just not for him.
Charles Sabine, who himself has HD, asked the room: 'If you knew you had a connection to the disease, or any disease, would you be tested?' More than half raised their hands stating they would. Sabine commented that this contrasts with people's actual behavior, whereby they are often afraid to disrupt their lives, and those of their families and employers.
The decision to test can also have implications for insurance. Sabine himself reflected on being refused a mortgage following his positive test results.
In 2019 the UK agreement not to have to disclose results of genetic testing to insurance companies expires. This creates an uncertain future for those afflicted by other genetic disorders, with HD already becoming an exception to the rule and a disease which must be disclosed.
As highlighted in the documentary, genetic testing has its pros and cons. Being tested for HD, or x-chromosome linked disorders, can allow prospective parents to be fully aware of their options and, when fertility comes into play, undertake preimplantation genetic diagnosis if they so wish. However, Georgina Hall voiced the fact that IVF itself is only an option, not an easy fix. Charles Sabine stated that knowing you have not passed on the disease to your own children is a great feeling, which is reflected by Drs Carroll and Roder in the film.
I feel from watching the film and attending the discussion, it seems that whether a person should be tested for a genetic disease, or not, must remain a personal choice. The implications for the individual are too great for anyone other than them to decide upon. This is highlighted aptly by 'Do You Really Want to Know?'
What seems perhaps more important is breaking down the social stigma attached to HD and other genetic disorders. Only when people come to accept that such disorders play a part in life, can those affected have the opportunity to live to their full potential. With this in mind, I recommend 'Do You Really Want to Know?' as worthwhile viewing to gain insight into life with HD but, more importantly, to gain perspective on the impact such a disease has on family life, and the range of emotions one can face from testing positive or negative.