Your browser is no longer supported

For the best possible experience using our website we recommend you upgrade to a newer version or another browser.

Your browser appears to have cookies disabled. For the best experience of this website, please enable cookies in your browser

We'll assume we have your consent to use cookies, for example so you won't need to log in each time you visit our site.
Learn more

Genetics: Genetic counselling

  • Comment

Genetic counselling is a process whereby people are supported through genetic investigation or testing.

Key points

Genetic counselling provides an opportunity for an individual to understand the genetic basis of their condition and be advised of their options with regard to genetic testing, prognosis and management. They are also supported in thinking through the implications for themselves and their family. Staff are non-directive; they provide information but do not influence any decision made (e.g. whether or not to undergo testing or continuation / termination of pregnancy).

Individuals are referred for genetic counselling because:
- they already have a diagnosis but need to discuss the likelihood of their children and/or other family member being at increased risk of also having the condition,
- they do not have a diagnosis and are seeing the genetic service as part of the investigative process,
- they may be at risk of a genetic disease that they know is in their family.

Choosing not to take up a referral to genetic counselling will not affect the care that they receive from their referrer or other health services.

A genetics referral will involve the genetic counsellor/ clinical geneticist in:
- gathering family history information
- drawing a family tree (a.k.a. pedigree or genogram)
- discussing the risk to the individual / current or future pregnancies / other family members that they might have a particular condition; might develop it at some stage in the future; or that they might be a carrier of the genetic change associated with the condition.
- discussing testing (if appropriate)
- exploring the clinical and psychosocial implications of the diagnosis for the patient (and other family members)

Clinic appointments tend to be much longer than a typical outpatients appointment and it is not unusual for patients/families to spend an hour with the clinical consultant or the genetic counsellor. Multiple consultations may take place over an extended period of time (months/years). Family members often attend with the patient - partners, parents, siblings and grandparents.

A typical question that you might hear:

I’m being sent to genetic counselling – what should I expect?

If your patient or a member of their family has been referred to a regional genetics service for genetic counselling it may be because:

  • they already have a diagnosis but need to discuss the likelihood of their children and/or other family member being at increased risk of also having the condition,
  • they do not have a diagnosis and are seeing the genetic service as part of the investigative process,
  • they may be at risk of a genetic disease that they know is in their family.

The information gained at a genetics clinic can be life-changing in some way, for the individual and the wider family and the first appointment can often be a very anxious time. Research has shown that many ‘mark’ the event in some way a day or so before their appointment, such as by a special family meal. It is important that those involved have realistic expectations about what genetic counselling can and cannot offer. Nurses and midwives should be able to give a good outline of what families can expect and answer any preliminary questions they might have.

Family History

Whatever the reason for the referral the first thing a member of the genetics team will do is take a family history and draw it out in a family tree (a pedigree). This helps the genetic counsellor or consultant geneticist to see whether a condition is running through the family and if so, how it might be inherited. Sometimes signs and symptoms that may appear very minor can be part of the condition or things that can appear unrelated might be very important. Having this information can be very valuable to the team in providing or confirming a clinical diagnosis.

Gathering family history information might involve the counsellor asking questions that might seem irrelevant or unnecessarily personal and intrusive but are necessary to gain a clear picture of the family. Anything told to a counsellor is confidential and information will not be shared with other members of the family or other health professional without express permission. Sometimes the genetics service may need to obtain information about other family members, e.g. access to their hospital notes. Consent will be requested from the individual in order to access the information.

The genetic counsellor will liaise with the clinical geneticist about the case. Depending on the case, an individual will see a genetic counsellor, a consultant geneticist or both.

Appoints can be attended by other family members but individuals may choose to go to clinic alone. Multiple at risk family members may be offered separate appointments so that each individual has all of their questions answered.

Testing

Genetic testing is not always appropriate (see Genetic Testing: Why can’t I have a genetic test?) but the genetic counsellor will explain the genetic basis of the condition (if known) and why a genetic test is or isn’t appropriate. Because genetic testing can impact on an individual’s future, their wider family and reproductive choices, the genetic counsellor will help them to consider the implications of a genetic test in order for them to decide whether they wish to pursue testing. These discussions may take place over a number of genetic counselling sessions, sometimes over a prolonged period of time.

If testing is appropriate and an individual decides to go ahead, the genetic testing will usually involve a blood sample. Results can take up to six months and occasionally longer (see Genetic Testing: It’s only a blood test, why does it take so long?). Prenatal tests are done much more quickly providing, that for an inherited condition, information on the genetic change in the family is available. The genetic counsellor will ask how the individual wishes to receive his or her results. Usually it will be at an appointment but it can be via a telephone call followed by an appointment.

Implications

The genetic counsellor may also advise on

  • how the condition might affect an individual
  • treatments available or monitoring that might be needed
  • support groups or information sources that might be helpful
  • who else may need to be informed (see Communicating genetic information)

A letter will always be written following an appointment so that the patient has a written record of what was said and can take time to consider the information given.

If your patient or a family member has any concerns about the condition in the future the genetics team is usually happy to speak and advise the best course of action.

Practice points

  • Find out about your nearest Regional Genetics Centre.
  • Find out which genetic counsellor(s) might cover your local practice area and how you can contact them. (Many RGCs also hold satellite district clinics.)
  • Familiarise yourself with the genetic counselling process. Speak to patients about their experiences. Follow up on patients who have attended a genetics clinic. Was it what they had expected?

A typical question that you might hear:

What am I being sent to genetic counselling? I don’t need counselling!

Genetic counselling is different from therapeutic counselling (e.g. bereavement or relationship counselling). Genetic counsellors are trained to help people understand the genetic basis of their condition, advise them of their options and support them in thinking through the implications for themselves and their family of being tested or not being tested.

Non-directive
Genetic counsellors are non-directive, that is to say they will give information and point out possible implications that the patient may not have considered but they will not influence their decision. They use counselling skills in their work to help individuals identify how they might feel in different situations and what genetic testing or diagnosis might mean for them and their family.

Individuals and families that would benefit from additional therapeutic counselling can still be referred to the appropriate specialist(s) via their GP.

Practice points

  • It is important that patients/individuals/families understand what genetics services are about and that it is their decision whether or not to accept the appointment.
  • If someone chooses not to have genetic counselling it will not affect the care they receive from their referrer (e.g. GP or hospital consultant), or other health services such as screening.

A typical question that you might hear:

I’ve been told to go for genetic counselling but I don’t want a genetic test - will it affect my care?

If someone chooses not to have genetic counselling it will not affect the care they receive from their referrer (e.g. GP or hospital consultant), or other health services such as screening. Similarly, if a patient has genetic counselling but decides against testing, their care will not be affected and the genetics service will continue to see them or members of their family as appropriate.

Genetic counselling is non directive. It is important for every individual to have all the necessary information about their (or their unborn child’s) condition before making a decision about testing or treatment. The decision is entirely theirs. Choosing to have a genetic test during pregnancy does not automatically define the next steps (e.g. a termination if the pregnancy is affected). Some individuals/couples choose to have a test in order to give themselves time to prepare and put in place a management plan for the pregnancy/birth should the pregnancy be affected.

Practice Point

  • Patients should not feel they are compelled to attend genetic counselling - it is their decision whether or not to attend. However, they should make that decision based on some understanding of what would be involved.
  • Genetic counselling isn’t just about genetic testing and tests may not be appropriate or available in particular circumstances.
  • The decision to have a test is made by the patient and has no bearing on how health professionals might then regard them.

A typical question that you might hear:

My child has developmental delay and I’ve been to genetic counselling - but they weren’t able to give me a diagnosis. Why not?

If a child does not appear to be reaching developmental milestones the family may be referred to the genetics service as part of a wider diagnostic process (behavioural, biochemical, audiological assessment etc). The causes of developmental delay are often complex and can involve genetic and/or environmental factors, complications of pregnancy (e.g. infection) or birth (e.g. prematurity). Genetic conditions involving developmental delay include Fragile X syndrome, Di George syndrome and many metabolic disorders. Frequently the specific cause remains undetermined.

For some individuals, the presence of additional features e.g. congenital anomaly, unusual facial features, unusual growth pattern or multisystem problems may enable a clinical diagnosis to be made or suspected. However testing to confirm the diagnosis of a genetic condition is not always available (see Genetic Testing: Why can’t I have a genetic test?) or conclusive (see Genetic Testing: I’ve had a negative test). Some conditions have features of autistic spectrum disorder. However at this time, there is not a specific diagnostic genetic test for autistic features in isolation.

For those with non-specific features, chromosome analysis is often a first-line test and is used to identify changes or rearrangements in the number and structure of the genome. These rearrangements (often deletions) are frequently seen in children with unexplained developmental delay and can encompass multiple genes. Limitations of current testing methods mean that not all rearrangements will be identified, and for those that are, it may not be possible to predict the impact of the change (because of the involvement of multiple genes) or provide a long-term prognosis.

The lack of a specific diagnosis will not affect access to services but may impact the reproductive choices of the parents.

Genetic science continues to move our understanding forward identifying new genes, linking alterations in the genome to specific conditions and in the development of new technologies to improve testing methods. The genetic service will often keep samples (with permission from the individual/family) in anticipation of these developments. It is not unusual for families to get answers many years after initial referral. Making a diagnosis, even many years later, can help the family to come to terms with the condition, explain it to others, and make more informed medical and reproductive decisions.

These questions were written by staff at the NHS Genetics Education and Development Centre

Resources

The NHS National Genetics Education and Development Centre provides support for health professionals to learn more about genetics and its relevance to professional practice.

Information on what happens at a genetics appointment is available from the British Society of Human Genetics

The Genetic Interest Group (a national alliance of patient organisations) has a range of useful information for patients and families including:

Contact a Family provides advice, information and support for parents of children with a disability and has a directory of support organisations that individuals and families can access.

  • Comment

Have your say

You must sign in to make a comment

Please remember that the submission of any material is governed by our Terms and Conditions and by submitting material you confirm your agreement to these Terms and Conditions. Links may be included in your comments but HTML is not permitted.