You have picked up this pamphlet because you are concerned with the question whether you would like to take advantage of the direct molecular genetic test for Huntington's Disease (HD).
This test has been available since 1993. Results of this test provide a view into a person's future. They are not a diagnosis of a manifest disease, but provide the information that he (1) who receives a medically positive result (2) carries a mutated gene for HD and if he lives long enough will develop the disease. Alternatively, given a negative result HD will not develop (3).
Decisions which affect a person's future should only be made after careful consideration. The advantages and disadvantages of the conse-quences of such decision to undergo the test should be weighed carefully against each other. Only after you fully understand the conse-quences of the test should you decide for or against it.
This pamphlet will try to summarize experiences gathered in the last three years. It groups the many-layered questions concerning the test into
individual problem areas - without claiming to be complete. It should serve as a guide and help in reaching a decision and most importantly stimulate thought. That is why we call it "Food for Thought."
I thank my colleagues from the Deutsche Huntington-Hilfe e.V., (DHH. Help for Huntington's in Germany) individuals known to me who underwent testing who contributed their experience, also members of the Huntington's Society in Germany who gave me "Food for Thought" and Ms. Helga Ahrens who kindly translated it.
Vice President of the DHH e.V.,
Vice President of the International Huntington Association (IHA)
Stuttgart, May 25, 1996
1. General Information about the Predictive Molecular Genetic Test
This test predicts with near 100% certainty (4) whether or not an individual carries the genetic mutation that leads to the development of HD. The test provides indisputable results and can therefore change completely the life of a person that undergoes the test. A positive test result does not imply that HD is manifest. The information provided by the test results is limited.
It cannot answer questions such as:
- When will a gene carrier develop the disease?
- How will the disease progress?
2. The Involved Circle of People
You have to become clear about the following:
Who are the people affected by my decision to undergo genetic testing?
- With which people do I have contact presently?
- Who could be added to this circle?
What relationships do exist and how could these relationships be modified by a test result?
Which changes would be painful or even unacceptable?
- With which people can I talk openly about being at risk for HD?
Are there people that I know who could bear the test results with me?
- Are there others who couldn't bear the results of the test?
2.1 The Test Person Himself
2.1.1 Why do I want to undergo the test?
The decision whether or not to undergo the test must be based on personal desire and should under no circumstances be made under
outside pressure or duress. Investigate which thoughts you connect with the molecular genetic test.
- Do I need the test results just for myself and why?
- How important is certainty in my life?
Do I know how to cope with certainty better than with 50 or 25% at-risk?
How will test results affect decisions I am about to make?
Do I have to face difficult decisions which I would like to avoid by taking the test? E.g., change of a partner?
Do I have problems I hope to solve by the test results? E.g., low performance or alcohol abuse?
Could test results be of actual help to solve my problemsor are there other alternate solutions?
Do I want to be tested because I anticipate a negative diagnosis?
How will I cope with a negative diagnosis?
How will I cope with a positive diagnosis?
Who will care for me when I do get sick?
Will my partner continue to love me and support me?
How do I relate to my parents?
Will I, or do I have to inform my parents, siblings or my children about my intentions to undergo genetic testing?
- How will my wish to be tested affect my partner?
- Does my partner understand the test and it's consequences?
- Can I talk openly to my partner about my anxiety concerning my at-risk status and does he have someone to talk to about his questions and feelings about the test?
- Can I expect my partner to take over, or have thrust upon him the responsibility to educate and nurture our children and possibly one day take care of me?
- Could the test results influence decisions concerning a partnership?
- Should I pursue a partnership at all when faced with a positive test result?
2.1.3 The Wish for Children
- Would I make a decision for or against having children of my own depending upon the test result?
- How would children react when they find out about their 50% at-risk status to develop HD?
- Will I refrain from having children who after all might have 40 years or more of a healthy life?
- How will I cope with my anxiety about my children?
- How will my partner cope with his anxiety about me and our children, especially in view of the fact that one day he may be left alone with our children as I could no longer offer support?
2.1.4. Education and Job
- Do I need the test results to make decisions concerning my education?
- Should I take upon myself a long term study program or settle for a shorter practical education program?
Family connections are no guarantee for endurance of a continued good relationship. These relationships can be changed or destroyed even without hardship. A test result with serious consequences, such as the molecular diagnostic test result for Huntington's Disease represents, will have its effect on the whole family. Individual family members may be affected differently by the test results.
Just the question: "test, yes or no?" split a family.
- Will I have the support of my partner in my endeavor to undergo testing or will he apply undue pressure on me?
- How will I deal with it if my partner has a different attitude toward the test?
- Would he desert me after a positive test result?
- Would he expect more of me after a negative test result?
- Do I need the test results to be a better father or mother to my children?
What legacy did I give my children?
- Do I feel guilty with regard to my children and hope to reduce this guilt by obtaining a negative test result?
- How will my relationship with my children change after being confronted with a positive test result that implies a 50% at-risk status for them?
- When and how will I inform my children?
- How will I express to them my psychological trepidation's during the test phase?
- Do I feel obliged to my children or feel pressured by them to clarify my gene status?
- What thoughts do I bear concerning my parents?
- Did they know about HD and their at risk status?
- Do I blame them for giving life to me with a 50% chance at-risk or carrying the gene for HD?
- Do I take my right to clarify my at-risk status although my parent at risk does not want to know?
- Can I openly deal with my parents concerning my plan to have the test performed, considering that a positive test result can have grave consequences and a negative result would provide relief to them.
2.0 The Involved Circle of People continued
- Should I inform my siblings about the gene test and my intentions?
- Negative test results can invoke guilt feelings toward siblings who have already developed the disease or toward those with positive test results
- Why on earth did I not get it?
Family members at risk are all in the same boat. Will my relationships to
my relatives change with a test result?
Will the whole family be drawn together or pushed further apart?
2.3 Friends and Acquaintances
Have I ever discussed HD with friends and acquaintances? What are their feelings about such diseases? To whom would I discuss my risk?
Who would remain loyal to me if I should become ill?
- Should I report a positive test result to my employer? If yes, at what time?
- After reporting the results do I expect understanding for mistakes in my job performance?
- Do I anticipate that in the future my weak performance will be lightly pushed away in view of the expected development of the illness, although at present there is no reason for it?
- Will my colleagues stand by me or will they desert me?
- Do I still have prospects of advancement in my carreer?
- Am I still taken seriously professionally?
- Will I be able to continue to educate myself?
We are linked to institutions in many-layered ways. Our relationships to them can change drastically following a positive test result.
Following are some examples:
3.1 Employers and Supervisors
As already mentioned, a positive test result is not a diagnosis of the disease and does not predict the time of onset of the disease. You are not obliged to inform your employer about the test results. If you want to do it anyway, you should ensure that your employer can asses this information properly.
A positive test result could predict expensive time off work and would thereby endanger job security. Even a well meaning employer-supervisor will encounter conflict of interest when facing downsizing of his establishment. The assignment to a civil service position can be blocked by reporting a bad test result. It is also possible that the entrance to certain professions can be blocked (5).
Each insurance company works with statistical principles and is profit oriented. Premium calculation is based on the probability that an insured event will occur.
Therefore, predictable risks or events such as HD cannot be insured at all or only at a very high financial cost. If a positive result has been posted officially, it has to be anticipated that no life insurance company will be willing to close a contract, and private health insurances will require a surcharge.
Before you undertake the first steps toward molecular genetic testing you should seek advice from a self support group that could give you advice (6). There is a possibility for anonymous diagnostic testing where you will take care of the financial costs of the test. This way only your acting physician will know the test results,and it will not be but in your medical records.
3.3 Data Protection
At present there are no legal principles that assure data protection in this sensitive area. It is entirely possible that the confidentiality of the physician can be breached, for example concerning a new insurance contract. In this way data could reach insurance companies as well as employers.
If one refuses to release one's physician from his confidentiality it could have negative reper-cussions. For example it could infer that the person seeking insurance is hiding something.
4. After the Announcement of the Test Results
Independent of the nature of the test results, it will change your life. Experience has shown that a negative test result is not necessarily purely joy, and that a positive result can have a calming effect. The test result cannot be taken back, it opens the view to the future. You should be prepared for this.
You probably ask yourself the questions:
- What effect will the test result have on my future life?
- Can I continue my life as before after obtaining the test result?
- What should I change and what will I change?
4.1 Psychological Aspects
You should not underestimate the psychological burden while you are waiting for the test results. The report of the test results can be a relief but it can also lead to a psychological crisis. Whatever your test result, coping with it will be a learning experience which will require time and strength.
For example, a negative test result could lead you to question your present life style which you adopted anticipating to become ill at some future point in time. Or you may expect to suddenly be an infinitely happier person without any problems. Do you have a confidant with whom you can share upcoming questions, doubts and anxieties?
This includes questions like these:
Why am I affected?
Why am I not affected?
Will I be able to be unburdened and happy again?
A positive test result will evoke the following questions:
- Faced with the prospect of the disease, do I have the right to indulge in only the positive aspects of life?
- Is the threat of illness used as an excuse for learning and performance disability, difficulties on the job or in problem solving?
- Do my compatriots still take me seriously?
- Whom can I trust and whom not?
- Am I still being taken seriously in my job?
- Will I develop inferiority complexes?
Another complex of questions concerning the anticipated disease follows:
- How great is my fear of the disease?
- What do I know about the disease and to whom can I turn who is familiar with the disease?
- What are the experiences and anxieties associated with the disease?
- Do I have any hope for new medication?
- How do I think about suicide?
- Would I consider talking with somebody about it and would I carefully think about such a step?
- How will I react when I believe I detect the first symptoms in myself?
5. Final Thoughts
We live in the information age. Knowledge is equated with strength. Does that imply, that not wanting to know is equal to weakness?
There are people with a strong desire for certainty and others with a great tolerance for uncertainty. Many people at risk have lived many years with this uncertainty, getting an education, collecting life experience and strength, and have made themselves financially secure. The predictive molecular genetic diagnostic test terminates this uncertainty.
A test result can be a challenge. The uncertainty about your gene status is gone, but other questions will arise.
(1) The presentation of a male individual in this report serves merely to simplify the text and for easier readability. Naturally male and female persons are addressed equally.
(2) A medically positive result in this context is equal to being an HD gene carrier.
(3) A medically negative result in this context is equal to not being a (mutant) gene carrier.
(4) For three reasons the test result is not always completely accurate and informative:
a) for less than 1% of tested individuals was the result ambiguous.
b) in some circumstances a negative result is less reliable than a positive one.
c) laboratory error is very rare but exists.
(5) In Great Britain it is known that persons at risk for HD do not qualify for entrance into the armed services or the Metropolitan Police Force.
(6) It may be prudent to take care of your insurance needs before making a decision about testing.
Information pamphlet from the Huntington's Lay Organizations concerning predictive molecular genetic testing
Compiled by Christiane Lohkamp, April 1996
Published by the Deutsche Huntington-Hilfe e.V.
PO Box 281251, D-47241 Duisburg.
English translation by Helga Ahrens, Madison WI,
USA May 1996