Overview

This information is for people who have met with a clinical geneticist or genetic counsellor about a family history of an inherited degenerative condition. This includes conditions such as Huntington's disease, CADASIL, frontotemporal demetia (FTD) and others. 

These questions are meant to help you think about some of the issues involved in testing, and in dealing with the test results. 

The decision about whether or not to have testing for inherited degenerative conditions is a very complicated and personal one. Many people choose not to be tested. For other people, the test gives information about their future.

There are no right or wrong choices, but it is important that you think carefully about being tested and make an informed choice.

Your relationships

Relationships with spouse or partner 

Is this person supportive of your decision to be tested, or do they have concerns about your decision or how you have come to it?

Have you discussed issues that affect you as a couple that might change depending on your test results? For example, decisions about having children, retirement, and long-term care issues. 

Many people who are at risk for a degenerative condition are concerned that they might be left on their own by their partner if they develop symptoms. You might want to discuss this, and any other fears you may have, with your partner. 

Relationships with extended family

How do you think your results will affect your interactions with your brothers, sisters, parents, and extended family? If the results show that you have inherited the gene change, will this affect how you feel about your affected relatives. For example, feeling closer to, or more distant from, them?

If you do not have the gene change you might experience ‘survivor's guilt’. This is when you wonder why you haven’t inherited the condition, when other family members have.

A person given a normal (negative) result may also experience a new feeling of responsibility for affected family members.

Who, if anyone, in your family do you plan on telling about your results? How will you tell each of them – by phone, letter, at a family meeting?

Relationships with children

Do your children know about the condition? Are they pushing you to have the testing? Are you involving them in your decision making? Will you tell them your results? If so, how will you tell them?

Relationships with friends

Are there people in your life that you feel you can talk to about the condition and about your decision regarding testing? Have you been through difficult times in your life with them before? In what ways were they supportive to you?

Having children

Knowing that you are at risk may affect your decisions about having children yourself. Some people decide never to have children at all, while others go ahead on the grounds that the children are likely to have many years of a normal life before developing the condition (if they inherit it at all).

People at risk of a degenerative condition may have the option of adoption. The process of adoption is not always easy, may take a long time, and is family dependent. Adoption agencies will consider your health and ability to look after a child. Some people may have the option of using donated eggs, sperm or embryos.

If you do have the gene change, your unborn children can be tested to see if they have inherited it, although this is only available in certain circumstances. This can be done either through prenatal testing or through pre-implantation genetic testing (PGT). There may also be the option of exclusion prenatal testing or PGT to determine whether a pregnancy or embryo is “high risk” for a condition in the family without revealing a person’s own genetic status. These options should be discussed with your local genetics service. 

Careers and telling people at work

Will your results affect your decision about the type of work you are doing now or plan to do in the future? Do you plan to tell the people you work with about your decision to be tested or the test results?

Many people at risk for these conditions fear they will be treated differently at work if they tell people about the condition. Some people fear that they will not be considered for promotion, or that they may even lose their jobs. Some companies have confidential employee services where you can discuss these concerns.

Your mental health and wellbeing 

Thinking you have the condition

Honestly considering your feelings about whether or not you believe you have or will develop this neurological condition is important. It can be more difficult to deal with the test results if they are the opposite of your inner feelings.

Testing and mental health

How may a test result impact your mental health? Do you have any existing mental health conditions that could be impacted? For most people a genetic result will impact their mental health. As part of the testing process we ask people to complete questionnaires which capture a snapshot of their mood. There is no right or wrong answers to their questionnaires. The answers help us to identify if someone may have feelings of anxiety or depression, and whether they would benefit from more support. This support might be before, or while going through the testing process.

Assessing your own coping strategies

How have you dealt with difficult situations in the past?  What do you do to get yourself out of a slump? For example, call a friend or family member, go for a walk, exercise, work in the garden?

What strategies work well to help you out in the short term? Are they different to those that work over the longer term? How do you ask for help when you need it?

Recognising what resources worked for you in the past is helpful because you can start doing them again when you need help in the future.

Dealing with uncertainty

For many people, one of the reasons for having a test is because they do not want to live with the uncertainty of not knowing.

For most inherited degenerative conditions, having a predictive test will tell you whether or not you are at-risk of developing symptoms. It will not tell you for definite whether you will develop symptoms, what exactly those symptoms might be, or at what age they are likely to occur.

It is important to be realistic about the uncertainty which you may feel if the result confirms you have inherited the altered gene.

Timing of testing 

The process of being tested for an inherited degenerative condition, and dealing with the results will be stressful and is often disruptive to dealing with everyday problems.

It is good to choose a time to be tested when complicating factors from the outside are at a minimum.  For example, being in the middle of the break-up of a relationship, or during a stressful time at school or work  are not good times to be tested.

Testing at a time of celebration may also not be a good idea. For example, directly before or after marriage, or in the middle of important holidays.

Insurance and financial planning

The Code on Genetic Testing and Insurance is reviewed every 3 years. Currently, insurance companies can only ask you for the result if the genetic test is for Huntington’s disease and if you are taking out more than £500,000 of life insurance. But you may have to declare a family history when you take out insurance. You can ask your GP not to send your insurance company any information about predictive genetic test results unless you want the insurance company to take into account a result that is in your favour.

The Association of British Insurers (ABI) have more information on insurance.

 www.abi.org.uk

More information

It is important that you think carefully about having predictive testing and make an informed choice.

If you want to continue with the predictive testing, our current process is as follows:

• You must have at least 2 pre-testing sessions.
• The results must be given to you in person or by video appointment.

We do advise that you have someone to support you at all clinical sessions.

Please contact your local genetics clinic as details may be different in your area.