Clinical genetics

Some of the reasons why you might have been referred to clinical genetics include:

• You have a known genetic condition in the family, and want to know the risks to you and / or your children.
• You have a child with difficulties which may be due to a genetic condition, and want to see if a diagnosis can be made.
• You have a strong family history of cancer, and want to know if you are at increased risk, and if you are what options are available to you.
• You have a known genetic condition and want specialist advice about the condition.
• You or your partner are pregnant and have a possible genetic condition in the family, you want to know if a diagnosis can be made and if so, your risks and options.
• You or your partner have been told that a test in pregnancy has given an abnormal result, and want to talk about what the result means, and what options are available.

Family history forms and confirmations

Following your referral you may receive a family history form (FHF).

Purpose of the FHF:

• The form is designed to gather information both on family members who have and have not had the condition you have been referred for.
• The form is one of the ways that we are able to make a more accurate risk assessment for you.
• If you are having trouble completing the family history form, please telephone the department, as we can often discuss it over the telephone.
• There is often not room for the whole family on the form, so the back page is to tell us about other relevant people, or you can write on a separate sheet. Please tell us who each person is related to.
• You are asked to complete and return the form within 10 days to allow us time to request further information for your risk assessment before your appointment.

Confirmation of diseases:

• A confirmation may be made using: a death certificate, Cancer registry listings, accessing pathology details, requesting medical records.
• Confirmations allow us to look at accurate medical information on a family member.
• By confirming a condition we can then provide a more accurate risk assessment for you.
• If the person we need to have information on is alive, we will send you a consent form to forward on to them. They should complete it and return it to us. Medical information cannot be obtained without the written consent of that person.
• We may also request death certificates on deceased family members as confirmations.
• We understand that it is not always easy to obtain information about your relatives, but the more information we have, the more accurate our risk assessment for you will be.

The risk assessment may also highlight other family members who would benefit from a referral to genetics or where we would recommend screening.

We aim to provide a prompt and efficient service, so the time scale that we are working within is short. If we do not receive your family history form in the allotted time, you may be removed from the waiting list. If you still wish to pursue a genetics assessment, you will then need to request a new referral to our service.

Once we have gathered the information we need, we assess whether or not an appointment would be appropriate for you. If appropriate, you will be added to our waiting list and sent an appointment letter in due course. If you are not available at the date or time of your allocated appointment, you can contact the clinical genetics appointments team on 01223 586828 to see if an alternative is available.

If you find yourself pregnant, please inform the person who referred you or contact us directly and we will arrange to see you sooner if appropriate.

Where are genetics clinics located?

Regular clinics are held in hospitals all around East Anglia.

Although we are not found on the ‘choose and book’ system for appointments we will try to offer you an appointment at your nearest hospital if possible, or alternatively you can be seen in Cambridge. If you are asked to attend a specialist clinic you may need to come to Addenbrooke’s to see that specialist team. The NHS Constitution sets out that patients should wait no longer than 18 weeks from GP referral to treatment.

Some Genetics appointments are also arranged via telephone or video (Attend Anywhere). This will be specified on your appointment letter.

Who will I see at my genetics clinic appointment?

You will be seen by a member of the clinical genetics team. This may be a doctor who specialises in genetics or a genetic counsellor.

How long is the appointment?

Most genetic appointments are 45 to 60 minutes long, so you should not feel rushed. Several relatives may attend the appointment together if they wish. Follow up appointments may be organised at one of our specialist clinics. This may take longer as you may be seen by several medical specialists with expertise in different aspects of the genetic problem in your family.

What will happen at my appointment?

The details of your appointment will vary depending on the reason for your referral but will often include:

• Assessment of the problem that has brought you to the clinic which will be discussed in detail. The doctor or counsellor will ascertain what questions you may have and what you would like to get from your visit.
• A family tree will be drawn which may include medical details of relatives, such as cause and age of their diagnoses or death. It is useful to have found out these details before you come to the clinic or bring a relative that may know.
• A medical examination may be carried out on relevant members of the family.
• The doctor or counsellor will explain the genetic issues to you and discuss all available options.
• You will be encouraged to ask questions and to make your own decisions about what to do with your genetic information. The doctor or counsellor can help you with this, but will not make decisions for you.

In some situations, tests (such as blood tests) may be offered. Sometimes you will be able to provide a sample on the day. At other times you will be asked to take some time to come to a decision about whether to proceed with a test and offered the opportunity to come back at a later date.

At the end of the appointment a plan will be made. This may include information gathering, special tests and / or another appointment.

Will any tests be done at my appointment?

We may suggest a blood sample but it is highly unlikely that we would suggest any other test at your first appointment. If other tests would be helpful, we will discuss these with you and then make arrangements for these to take place later if you would like to go ahead. Genetic testing on a blood sample is only indicated in some families so some people will not be offered a blood test.

What will happen after my appointment in the genetics clinic?

We will write to the referring doctor (your specialist or GP) with a summary of the consultation and the advice given and any plans which have been made (e.g. for further investigation or follow up). You will usually be sent a letter summarising what was discussed at the appointment and what plans were made. If anything in this is unclear, you should contact your clinical geneticist or genetic counsellor again.

Genetic counselling is a fairly recently developed branch of medicine so many people do not understand what it involves. Genetic counselling may be offered by a doctor who specialises in genetics or by a genetic counsellor. Genetic counsellors are health professionals who have undergone specialist training following either a university degree in genetics or a related science or following qualification as a nurse or midwife.

Genetic counsellors can give people information about hereditary conditions, how they are inherited and which family members may be affected. They can also discuss the care of people with genetic conditions and any choices that may be available to them to help reduce the impact of their condition.

The role of a clinical geneticist or genetic counsellor is not to lead you to make particular decisions or choices. Their role is to provide you with accurate information about the options available to you, and to help you to understand and support you so you can make the decisions that are right for you.

Genetic information is stored in the form of genes in every cell of our body. Genes are a form of code, comparable to recipes, which tell our bodies how to develop and function. We have about 20,000 genes that control our development and health. Slight differences in the code of these genes are responsible for most of the differences between individuals. If there is a serious mistake in the code of one or more of these genes or if they are missing or duplicated then we may be born with, or develop, a genetic disorder. The type and severity of the disorder will depend on which genes are affected and how they have changed.

Each of us has two copies of most genes, one inherited from our mother in the egg cell, the other from our father in the sperm cell. This is why we inherit traits from our parents, including those that cause medical conditions. Current technology allows us to examine genes in individual people to look for changes in the code and to see how these are inherited within a family. Looking for a particular gene change that may be responsible for a medical condition in a family is called a genetic test. Because genetic information is stored in all cells of the body, a genetic test can be performed on a small blood sample or on other tissues such as skin cells.

Genes are packed together into 23 pairs of chromosomes, each containing several thousand genes. Sometimes, an entire chromosome or part of a chromosome may be lost or duplicated or broken. Down syndrome, where there is an extra copy of chromosome 21, is one example of this. Specific genetic tests can also detect these changes in an unborn baby or in an individual where chromosomal changes are suspected.

A genetic test may be offered:

• To correctly diagnose a disorder in a patient who has features / symptoms – this is termed ‘diagnostic testing’. This in turn can help to inform decisions on treatment, surveillance and risks to other members of the family.
• To determine whether an asymptomatic individual is at risk of developing a disorder later in life - this is termed ‘predictive testing’ (see below).
• To find out if an unborn baby is likely to be born with or develop a serious or life / threatening condition – this is termed ‘prenatal diagnosis’.

What is a predictive test?

This is a test performed on a sample from a healthy individual to find out whether they have inherited a gene change that may eventually cause symptoms of a disorder. Examples of this include Huntington disease, myotonic dystrophy and some of the familial cancer predisposition conditions. Predictive tests are only offered to people who are known to be at risk of a genetic disorder because of their family history. The test can only be done when the nature of the genetic change is known.

Because it is a difficult and sometimes life-changing decision for a healthy and symptom-free person to have a predictive test, it is only offered after genetic counselling and when sufficient time has elapsed for an individual to think carefully about all of the implications for themselves and their relatives.

Individuals wanting more information about predictive testing should contact their GP for a referral to see a member of the clinical genetics team.

If for whatever reason you are unable to attend your clinical genetics appointment, please email the clinical genetics appointments team or call them on 01223 586828. Please note, these contact details should not be used for general enquiries. If you have a general enquiry, please contact us on 01223 216446.