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Genetics: Communicating genetic information

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What a genetic diagnosis means for a patient and their family.

Key points

Genetic information can have wide-reaching implications. Individuals may need support to help them discuss their diagnosis/testing/care needs with family, friends, employer etc (as appropriate)

Nurses are trained in communication skills and the principles underlying these are highly relevant to communicating genetic information

  • Information should be given simply and clearly, appropriate to the individual’s educational level, language and developmental stage.
  • Patient/client understanding should be checked at regular intervals
  • Information should be given at a pace to suit the client
  • Diagrams and other ‘teaching’ materials should be used to aid understanding
  • Sensitive use of terminology of important
  • Follow-up oral information with a letter or leaflet wherever possible
  • Communication is a two-way process – listen to your patients.

A typical question that you might hear:
I’ve just received a genetic diagnosis. What does this mean for me and my family? Who should I tell in my family? How and when should I tell them?

As with any diagnosis, the answers depend on the condition. Some illnesses have financial and social as well as healthcare implications. In addition, the heritable nature of some genetic conditions means that other family members may also be at an increased risk of the condition and therefore knowing who to tell, when to tell them and how to approach sharing the information is important. Even when a family member is not at risk, sharing information with them regarding one’s own diagnosis can still be difficult.

If your patient is not already under the care of the genetics team, contact your regional centre to discuss if a referral would be appropriate and then discuss this option with your patient.

Outlined below are a number of examples that illustrate how the information needed by a patient or their family might vary depending on the diagnosis.

Care
The individual with the condition may require treatment or screening to prevent or minimise the health problems associated with the diagnosis (refer to national or local guidelines). For example, conditions such as familial hypercholesterolaemia and haemochromatosis are best managed before any signs or symptoms are apparent so that serious disease can be avoided. Screening is available for those with or at risk of an inherited predisposition to specific cancers (e.g. breast, colon, ovarian).

Some conditions necessitate the involvement of a range of specialist services. Whilst this maybe coordinated by the GP, a care card can help the patient or their family/carer keep track of the care received and planned. It can also provide outline information for any health professional not familiar with the condition as well as a summary of who else is involved in providing care. Some conditions are managed by specialist centres where multi-disciplinary clinics are used to provide a co-ordinated approach to care.

Specialist equipment or mobility aids may need to be requested or planned for and those with a degenerative condition may need the help of a family member or carer to help care for them in the future.

Financial
A diagnosis can limit employment prospects resulting in potential financial implications for the family. Individuals may need to consider changing their job if their conditions job puts them, their colleagues, or clients/customers at risk.

There may be insurance issues if the individual is self employed, taking out health or mortgage insurance cover.

Communication and (Psycho)social Implications
Sometimes individuals don’t want other family members, their friends or neighbours to know about the condition if they feel there is stigma attached to the condition or that they might be judged for the choices that they make. They may also require time to adjust to their genetic status before sharing this information with others.

Who within the family should be told, depends on who is at risk and who is at risk depends on the pattern of inheritance for that particular condition. Some conditions can be prevented or managed best if those at risk are identified when at a young age (e.g. inherited forms of bowel cancer) and so communication between family members is very important. Parents may approach late/adult onset conditions very differently. Some may choose to introduce the idea of an adult onset genetic condition which runs in their family from a young age, others decide not to tell children until they are older and need to know in order to make choices or themselves.

How and when other relatives should be told depends on the relationship the persons involved have, how old the relative is, when and they need to know. Where family members may not be on speaking terms, an intermediary friend or another family member can be used to pass information to relevant relatives. Often a letter from a genetics department that can be handed by one family member to another can be helpful.

Support organisations offer advice and/or literature about talking to children and other family members and the genetics service often provide support to individuals and families over long periods of time as questions change with life stage and circumstance.

Practice Point
Your role may place you in a position to provide support and information to an individual or family regarding their diagnosis and the potential implication of the condition. Whilst you may feel confident discussing the clinical implications you may be less familiar with other areas because you may not see inherited conditions very frequently. Subjects like understanding who in the family might be at risk and how to communicate with them are areas that staff at your regional genetics centre will be very familiar with.

  • Obtain contact details for your local regional genetics centre and identify their policy on enquiries
  • Know the genetic conditions that you might encounter in your field of practice - what are the related health implications and care needs are for those with a diagnosis.

A typical question that you might hear:
I’m going to have a genetic test for [condition]. Should I tell my doctor? Who will know about my test result?

If your patient is well but considering a genetic test to see if they will develop a condition already known to be in their family the geneticist is likely to discuss who should be told, before they have the test. These will include:

Clinical Genetics
The laboratory staff carrying out the test will know the result. Testing is usually done in NHS clinical service laboratories where staff work to a code of practice. The person requesting the test will know the result and their immediate colleagues may also have access to the information. In order to ensure best possible care for the individual/family the case maybe discussed at team meetings before or after the appointment.

GP
It is helpful to keep the GP informed. Whenever someone attends a clinic or hospital appointment the GP is usually kept up to date with what happened at that appointment. The GP usually co-ordinates care and in order to do this properly needs to know as much medical information as possible about their patients. Usually the member of staff seen at the genetics department will write to the GP and inform them that the patient is being tested and then what the result is.

Some conditions don’t reveal themselves for a long time. Someone who has a genetic test and learns that they are likely to develop a late onset genetic condition needs to let their GP know so that if ever they start to show signs or symptoms of the condition their GP doesn’t waste time trying to figure out what’s wrong with them and ordering unnecessary investigations. The GP may also need to consider the diagnosis as part of the bigger medical picture. For example, certain conditions (e.g. an inherited cardiac arrhythmia) may limit the choice of drugs that can be prescribed, even for an unrelated ailment.

Other healthcare staff
If the test is for a condition which can be prevented, or serious complications minimised by early intervention and screening, the person/department involved in the intervention will need to know. For example, someone who carries a gene change that results in haemochromatosis could benefit from regularly blood tests to avoid serious medical complications and an individual at risk of bowel cancer may chose early surveillance involving sigmoidoscopy.

Family
Family members will know if told by the patient or the patient gives the genetics department permission share test result information. Before a genetic test is carried the individual may be asked to sign a consent form say that that they are willing to share information with family members. This can be very helpful, particularly when there is a large family known to the genetics department but not all the family members know each other. Even in smaller families it is helpful to be able to share information so that other family members can know their own risk for a condition, allowing them to decide if they want to have a genetic test as well. The identification of a gene change in one individual facilitates testing for other family member by enabling a targeted approach to testing.

Usually the doctors and counsellors in the genetics departments will not write directly to relatives unless this is something that is specifically discussed. More often a letter is provided that can be given to specific relatives to invite them to arrange an appointment with the genetics service, explaining a little about why they may benefit from the appointment.

Other individuals/organisations
Employer - With certain conditions, particularly if there are safety issues the employer should be notified so that the individual, their colleagues and the public are not put at risk. Some organisations insist that the employee keeps them informed of changes in health status. This doesn’t necessarily mean that the individual can’t do the job they have; sometimes it means that they will require regular health checks from their employer to review the situation. If there are employment issues with respect to a particular genetic test this should be discussed and considered as part of the pre-test counselling process.

DVLA (Driver and Vehicle Licensing Authority) Some conditions can affect an individual’s ability to drive safely. However, a clinical diagnosis does not mean that the person will be prevented from driving from the point of diagnosis. The DVLA may require regular driving assessments to ensure that it is safe for them and for other road users, if they continue to drive.
Insurers The clinical and laboratory genetics departments aren’t usually asked to give information to insurance companies. With permission, an insurance company may write to a GP to ask about an individual’s health and tests that they have had. With the exception of a predictive test for Huntington disease (when applying for life insurance worth over £500,000) there is no obligation to disclose information regarding predictive tests taken. Questions about family history are used by firms to make an assessment of risk for particular conditions, however, insurers cannot ask someone to take a predictive genetic test in order to get insurance.

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

Resources

Know how to contact your Regional Genetics Centre. A Directory of UK Genetics Centres is available form the British Society of Human Genetics

The Association British Insurers offer information on Genetic Tests and Insurance

Information regarding the Medical Rules for Drivers is available from the Driver and Vehicle Licensing Authority (DVLA) provide information

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