Genetic Counselling for GPs

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 non-directive and aims 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.

• GPs are now frequently asked about inherited diseases in the context of both:
  • The possibility of an individual patient having an increased risk of a disease from which a close member of their family suffers.
  • The risks of a couple having a child affected by a particularly disorder that may or may not appear in the family.
• Explain mechanism of inheritance of a disease to patients.
• Dispel unnecessary fears in patients without significantly increased risk of disease.
• Advise on lifestyle changes for patients who may have inherited an increased susceptibility to a disease, e.g. coronary heart disease.
• Provide advice and support to patients where consultation with a clinical geneticist may be clinically indicated, e.g.:
  • Patients with relatives or offspring with recognisable inherited diseases, e.g. cystic fibrosis, Down's syndrome, Beta-thalassaemia.
  • Ethnic groups at special risk, e.g. Ashkenazi Jews.
  • Patients with a clear family history of high levels of certain forms of cancer occurring at an early age, e.g. breast, colorectal, ovarian and endometrial cancers, familial adenomatosis polyposis.¹
• Advise on antenatal screening for disorders where there is a strong family history such as muscular dystrophy, cleft lip, spina bifida, congenital heart defect. Need to ensure that parents are aware of the alternatives for the pregnancy when screening is positive.
• Advise on the alternatives to normal conception, e.g. in vitro fertilisation with embryo selection, adoption, sperm or egg donation.

• Counselling should be carried out in a relaxed atmosphere with sufficient time to absorb the initial shock of diagnosis or bereavement.
• Advice should include the clinical presentations of the disease, treatment, natural history, prognosis, complications, and a clear explanation of the genetics. The risk to the individual of developing symptoms, the risk to future offspring, and the way in which the disease is transmitted.
• All information must be given in simple, easy to understand language.
• Carefully assess the understanding of the couple about the problem: have they any misconceptions which need rectifying, or any misplaced guilt?
• The reproductive options of the couple must be discussed in an unbiased manner. If required, contraceptive measures should be arranged, and the possibility of in vitro fertilization or adoption investigated.

• The GP needs to offer informed advice to the patient in terms of the risks involved and any necessity for referral for further testing.
• Patients often find it difficult to understand risk and a careful explanation of chance and probability may be needed.²
• Discussion should be easy to understand and closely geared to the individual patient in terms of their understanding.
• Frequencies are better understood than percentages.

Common reasons include:

• A person with a known genetic condition in the family, wanting to know the risks to themselves and/or their children.
• Parents of a child with difficulties which may be due to a genetic condition, referred to see if a diagnosis can be made.
• A person with a strong family history of cancer, wanting to know if they are at increased risk, and if they are what options they have.
• A person with a known genetic condition wanting specialist advice about the condition.
• A person with a possible genetic condition in the family wanting to know if a diagnosis can be made, and if so, their risks and options.
• A pregnant couple told that a test has given an abnormal result, wanting to talk about what the result means, and what options are available.