Presymptomatic DNA Testing for Children

At the recent Annual Meeting of the American College of Medical Genetics, Sharon Terry, President and CEO of the Genetic Alliance, participated in a point-counterpoint presentation on the question of offering presymptomatic testing of children for genetic disorders for which there is no treatment. Following 12-minute presentations by both sides, there followed a lively half-hour discussion among the attendees on this delicate topic. The VHL Family Alliance is a member organization of the Genetic Alliance.

Pro position for:

Children may be offered presymptomatic testing for genetic disorders for which there is no treatment at the request of the parent or guardian.

I’ve agreed to take the pro side of this question. I took it reluctantly, because I felt very middle of the road about this until preparing this argument. In the course of the preparation, I convinced myself!

I put this issue out on the Genetic Alliance MemberForum – the listserve for lay leaders of genetic advocacy groups -- about 4 days ago and it has engendered the best discussion yet! So my comments are infused with the passion of my colleagues.

Like all ethical questions, we like to pretend to ourselves that it is black and white. But the shades of grey are especially evident when one acts as if they are simple choices: personal choice and societal good; disease and health; treatment and management; autonomy and authority; benefit and risk; advantage and disadvantage. But in fact they are points along a continuum of shades of grey.

I begin by sharing with you a message from one of our members. I’ve changed the names to protect their confidentiality. Sally writes:

“Our son, Michael, was diagnosed 13 years ago, at the age of 12, with Niemann-Pick Disease Type C. NPC is a rare, neurodegenerative, life-limiting, metabolic disease for which there is no cure and, as yet, no effective treatment.

“When Michael was diagnosed we were told that the disease was autosomal recessive and that there was a one in four chance that his older brother, Rick, aged 14, might also have NPC. We were asked if we wanted to have Rick tested - we said, “No”. Rick was physically very fit and, as far as we could tell, did not seem to have any obvious symptoms of the disease. We felt that we had enough to cope with dealing with Michael’s diagnosis and the severe seizures that he was having at the time.

“After a while however, we did begin to wonder if perhaps the recent difficulties that Rick was having in some of his subjects at school might possibly mean that he too might be affected. (There were no support groups for NPC at that time and we did not know of any other families we could speak to.) Eventually we decided that we really needed to know, to set our minds at rest and free our energies to taking care of Michael, or to gather our strength to deal with the emotions and practicalities of the deterioration and death of both of our sons. We arranged for Rick to be tested and waited three months for the results of the skin biopsy.

“We were devastated when we learned that he too had NPC.

“Michael died six years after his diagnosis at the age of 18 years.

“Rick has had a much slower progression of this disease. He is now 27 years old, still physically strong but he struggles with dementia and some mobility difficulties.

“A year or two after Rick’s diagnosis, when he was still apparently well, I asked him if he ever wished that he did not know that he had NPC, that he had never been tested. He said, “Oh no, Mum, now I know I am not stupid. I know there is a reason for some of the things I can’t do”. When we had thought that he had no obvious symptoms, Rick had been struggling to understand why he was not able to keep up with his peers, why there were some things that he could not do as well as he wanted to.

“In spite of the horror of the diagnosis, I am glad that we decided to have the test, so is Rick. He has been able to make life choices that he might not have made, had he not known. Knowing that he has NPC has enabled us to support him in his choices and not put undue pressure on him in other ways.

“Rick is very aware of the effects of NPC - he has seen what it did to his brother and to many friends he has made over the years. He has been very involved in meeting other families and in taking part in research. He is currently taking part in a clinical trial of a possible new therapy that might slow down the progression of the disease. He remains positive that an effective treatment will be found. Rick is a wonderful, very determined, young man who happens to have NPC and, we are told, is an inspiration to many other families living with this disease.

“Are we in favor of testing presymptomatic siblings? Definitely yes!”

Sally has said beautifully a number of things that give a face to this argument.

The American Academy of Pediatrics says, “little direct benefit accrues to a child simply from knowledge of his or her genetic status.” The American Society of Human Genetics and the American College of Medical Genetics, have joined together under this policy: “children may not accrue benefit from being tested for genetic disorders.” They do urge caution before ‘dismissal’ of parent requests.

These policies are based on benefits and harms – the desire to do good, and not to do harm. But what these organizations have determined as policy doesn’t quite jive with Sally’s perspective.

What are the benefits? When I asked my colleagues, they cited these as the benefits: preparation – for lifestyle (for the family and the child), choosing caregivers and specialists, financial planning, choice of job, educational choice, finding a support group, securing insurance.

Parents felt that they could benefit from cultivating relationships, watching for signs and symptoms of the disease, alleviating their anxiety, building their support structures, promoting research and building registries, and beginning the long road to acceptance.

When any one of us who lives with disease looks at this choice, we see it very differently than those who do not live on this side of the line. The biggest question for us is: who determines what is health and what is disease, what is whole and what is not? Variations in health are normal.

We do not accept that we are speaking about something for which there is no treatment – again, we feel that treatment is defined rather narrowly by the medical community. Person after person on our listserve gave examples of treatments that might not be considered treatments – these were: a different lifestyle, changes in schooling, special diets, preventative measures. Even in the absence of medical therapies, many parents felt there was still a great deal of ‘management’ to undertake. They did not ascribe to “What will be, will be,” but thought that, particularly if they could build a group of affected families, they could encourage research. There was a sense of urgency – we need to start now beginning to accept others and accept disease – and by doing so, we will create an environment for true public health maintenance.

Parents do not want the doctor making decisions for them, they want to make the decisions for themselves and their children. Some people argue that the child should be free to discover their affected or unaffected status as adults. This argument is made by healthy people – it doesn’t make sense to those of us on this side of the line. These healthy people believe that if a disease is revealed, then the child will be devastated. This is not our experience and it is not the experience of children such as Rick. Living with disease or wondering if you have disease can be harmful or beneficial, depending on the circumstances.

In addition to medical arguments, there are a number of psychological arguments:

Behavior – it is often said that the behavior of these children will be worse for the testing. Several studies by Michie (J. Med. Gen 1996) and Jårvinen (Pediatrics 2000) showed that children in these situations did not have behavior that was worst than their peers.

Stigmatization – Jolly, in his article The Genetic Testing of Children refutes this. McConkee-Rosell says that only 1 in 28 women carriers of fragile X felt it would be worse to know as a child. All the rest were not worried about stigmatization.

Fanos, in a study on Ataxia Telangectasia, determined that testing is well tolerated provided there are the proper supports.

John Twomey, author of a paper: Genetic Testing of Children: Confluence or Collision Between Parents and Professionals?, an article in the American Journal of Nursing, determines that when parents make decisions within the family framework, the parents are placing a higher value on the child, nurturing him or her in the present, not some future unknown to be preserved with all options open. Parents comfort their children, help them prepare for future decision-making and include them in the family to help make them part of the family fabric.

He suggests that families are not using medical principles, nor are they measuring things by the psychological metrics, but instead are using ‘ethics of care’ as a measure. In an ethics of care environment, rules are suspended in favor of strengthening relationships. The work of Sherwin suggests that the family doesn’t seek universal guidelines, but instead seeks it own balance in a dynamic way. Thus parents fill a roll that no professional can ever fill, nor can a professional ever make a decision for a family.

Twomey goes so far as to say: ”No universal policies should be [legislated] by any bodies that recommend absolute limits on genetic testing of children under any circumstances. The best way to protect the interests of the child is not found in protections from theoretical harm, but rather in means for educating all involved in the decision making process.”

My two children have a late onset genetic condition. They’ve lived with this knowledge for nine years and two months. It will cause blindness and a host of other difficulties. They have seen hundreds of people blind and disabled from pseudoxanthoma elasticum (PXE) because of traveling the world with us as we built the extended family we call PXE International.

A few months ago, Elizabeth began a small tirade at dinner – she is now16, and her brother Ian, age 14, chimed right in with her. They very heatedly told us that their disease was not a disease – it was a gift. They said that they would choose no other path – that having PXE makes them no less a person now that they are aware of it, that our perceptions of health are in the box, and that they, and all people with genetic conditions, have a right to live in this life the way they will – even if others think it is less than whole and not complete. They said they would choose to know about the risks they face because these nine years of knowing have gifted them with more depth and purpose in life than they think they would have gotten in any other way. They agree with Rick.

One of my wise peers points out: “It is not the cards you are dealt in life that counts, but rather how you play then.” You cannot maximize your playing of the cards if you don’t know what they all are. I choose to know for my children, that they might be integrated into the fabric of our life. I want us to have the time and opportunity to build the support, to create structures and actions upon which to hang hope, and at the end of the day, to know, and in the knowing experience less harm and less risk, all the while preserving our autonomous decision making, nurtured in the loving environment of our own family dynamics.

I think the decision to test should be the parents’ decision, and the health professional community should offer the support and expertise necessary to make that experience a healthy and whole one. Thank you.

As printed in the VHL Family Forum  12:1, March/April 2004.  For permission to reprint, please contact VHL Family Alliance, editor@vhl.org. Further information is available from the VHL Family Alliance, info@vhl.org.