Referring to specialist genetic clinics

For some patients and families with a genetic condition, you may find there are specific clinical questions  and/or management issues which are best answered by referral to the specialist genetic services.

Specialist genetic services are particularly skilled in:

  • Making or confirming the diagnosis of a genetic condition
    Calculation of the probability of inheriting a condition or of being a carrier
    Explanation of the genetic or inherited basis of the condition, and potential implications for family members
    Discussing and undertaking genetic testing and explaining results
    Giving up-to-date Information about a condition, its management and treatment

Genetic services are experts in dealing with families, often over several generations, and providing genetic expertise for any age group affected by, or at risk of, disorders in any body system.

The majority of specialist genetic services are provided through Regional Genetic Centres which provide a co-ordinated clinical and laboratory service, often in close association with an academic university department.  The clinical team usually includes Clinical Geneticists (medical doctors who increasingly may have subspecialty expertise), doctors in training, Genetic Counsellors  and supporting administrative staff.   

This depends on the clinical question to be answered.  Some examples of people who have found referral to be valuable include:

  • A person with a possible or known genetic condition in the family wanting to know if a diagnosis can be made in them or their offspring, and if so, the risks, options and treatment.
  • A person with a family history of cancer, wanting to know if they are at increased risk, and if so what options they have.
  • Parents of a child with multiple medical problems and/or learning difficulties, wanting an expert opinion particularly as to whether an underlying diagnosis can be made
  • A person with a genetic condition wanting information about the condition and the management / surveillance options available for them
  • A person with a family history of a condition undertaking a genetic test to determine if they have inherited the condition or are a carrier
  • A couple considering pregnancy where there is a genetic condition in the family, requesting information about reproductive options
  • A couple who have had recurrent pregnancy losses or children with multiple anomalies
  • People requiring access to and explanation of complicated genetic tests

General genetic clinics are held not only at regional centres (which are mostly based in large teaching hospitals) but also in district clinics and community locations.  It is likely that your patients can therefore access a local service at your district hospital.  Some centres also offer multidisciplinary clinics with other speciality teams (e.g. cardiology, nephrology, endocrine etc.)   

List of regional centres offering genetic clinics

  • Discuss the option of a referral to the specialist genetic services with the patient and the reason you are recommending this. Please ensure that the patient consents to the referral and is aware of what is likely to follow.

  • Identify your regional genetics centre and where they hold district clinics.

  • Identify the referral pathway specific for your regional genetics centre, as in some centres a referral may be made via telephone (if urgent – usually because the referral involves pregnancy) or via letter (routine) or via electronic means.

  • If you are unsure if a referral is appropriate, then telephone your regional genetics centre for further advice.

The referral information the specialist service will require is similar to that for any specialist referral, (patient identifying details such as date of birth, address, telephone number, of course) but it is helpful to include information about the confirmed or suspected diagnosis or the genetic question being considered.  In particular, information about the family history is important to highlight in the referral letter, particularly if any members of the family have been seen by a genetics service.

List of regional centres offering genetic clinics

Following the receipt of the referral, it is likely that your patient will be contacted for further information, particularly about family history.  This information may be requested via a questionnaire or a telephone call, through a family history clinic appointment, or by a home visit by a genetic counsellor.   For most patients, a clinic appointment with a clinical geneticist is then offered.

In the UK, NHS genetic counsellors are nurses or graduates who have undertaken specialist training in genetic counselling. The majority work in the Regional Genetics Centres but increasingly may be employed in other specialist units, such as cancer centres. A Clinical Geneticist is a medical doctor who specialises in genetics.

An appointment at a genetics clinic is similar in many ways to any hospital appointment. However due to the nature of the conditions and that many run in families,  there are some differences.

Most genetics appointments are 30-45 minutes long, to allow sufficient time for examination and explanations.  Patients may be accompanied by relatives.

The exact form of the appointment may vary depending on the exact reason for which the patient is being seen, but the following are likely to be part of a consultation:.

  • The problem that has brought the patient to the clinic will be discussed in detail
  • A family tree may be drawn, and medical details of relatives may be asked about (such as the cause and age of their death) if not collected before the clinic appointment. It is helpful to suggest to patients you refer that it will be very useful to have found out these details before they attend the clinic, or to take along a relative who will know
  • A medical examination may be carried out on one or several family members
  • For certain conditions, photographs may be requested for the medical record
  • The doctor will explain the findings, and discuss all the options
  • The patient will be encouraged to ask questions, and to make their own decisions. The geneticist will help with this, but will not tell the patient what to decide
  • In some situations, tests (such as blood tests) may be offered. The blood test may be taken on the day, but often patients will be asked to take some time to make a decision, and come back another day. Results often take several months to come back because of the complexity of the work the laboratory has to do.
  • A summary of the clinic appointment, any planned investigations and further management plans is usually sent via a letter to the patient. Copies will be sent to the GP and other relevant healthcare professionals involved.

 

Sometimes patients hear that when they have been referred to the specialist genetic services they have been referred for “genetic counselling” and are not sure what this means. Indeed, the term may often be misunderstood by health professionals too.

One definition of genetic counselling is “The process by which information on genetic disorders is given to a family and supporting them in making their own decisions”,  but  opinions vary within the genetic counselling profession about its exact definition and scope.  There are however some generalisations with which most genetic specialists would agree.

Genetic counselling is not primarily "counselling" in the psychological sense. Although the counselling must be sensitive to the emotional and psychological issues raised during a consultation, genetic counselling is not a form of psychotherapy.

Genetic counselling is conducted in a non-directive manner. Genetic professionals try to explain the facts as clearly as possible, giving the person or family accurate information on their options in a way which they can understand, and helping them to make up their own minds.

During the clinical appointment patients may be asked if they would like to participate in research.
This is because the findings from genetic testing may make more sense if they are compared with those from other people.

There is a lot of variation in our genetic code, and for much of the variation we cannot tell if it leads to disease without comparing it with others and their states of health. Your patient's data will not be linked to their name or address for this type of research, but it will not be anonymised completely because it might need to be linked back to them if certain findings become clinically important in the future. 

At other times your patient may be asked to take  part in a specific research project - perhaps related to aour particular condition or the question that brought them to the appointment. In this case your patient will be told about the details of the study and whether they might hear anything back, or whether the research is unlikely to have any clinical benefits for them.

All research studies that are offered to patients within the NHS have been through a checking process to ensure the way the samples and data are used are ethical, that all data is stored securely, and that access to this data is highly regulated. Your patients should ask any questions and make sure they know what will happen to their sample and the data collected from it

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