Genetic Counselling for GPs

Genetic counselling is not primarily "counselling" in the psychological sense. 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.

Genetic counselling should be regarded as an integral part of the genetic testing process and should be offered and strongly recommended in most genetic testing situations. If an individual insists on having a test without genetic counselling, the medical facts and possible consequences should be discussed by the clinician ordering the test.

• Diagnostic testing: genetic testing performed in a symptomatic individual to confirm or exclude a genetic condition.
• Predictive testing: genetic testing in a healthy high-risk relative for a specific later-onset monogenic disorder.
• Susceptibility testing (risk profiling): a genetic test of a marker or several genetic markers with the aim to detect an increased or decreased risk for a multifactorial condition in a healthy individual.
• Pharmacogenetic testing: testing for a genetic susceptibility for adverse drug reactions or for the efficacy of a drug treatment in an individual with a given genotype.
• Carrier testing: a genetic test that detects a gene mutation that will generally have limited or no consequence to the health of that individual.
• Prenatal testing: a genetic test performed during a pregnancy, where there is increased risk for a certain condition in the fetus.
• Preimplantation genetic diagnosis (PGD): testing the presence of a mutation, linked haplotype or chromosomal change in one or two cells of an embryo in a family with a previously known risk for a Mendelian or chromosomal disorder, in order to select the unaffected embryos to be implanted.
• Genetic screening: testing where the target is not high risk individuals or families, but where the test is systematically offered to the general population or a specific group (e.g. newborns, young adults, an ethnic group).

• Genetic counselling has to be provided or supervised by a health-care professional appropriately trained for genetic counselling.
• Non-genetics health care professionals have a responsibility to recognise their abilities and limitations with regard to provision of genetic services.
• Health care professionals should not agree to testing without pre-test counselling in circumstances where doing so would go against their professional judgement.
• Predictive tests for future severe illnesses with no options for treatment or prevention should not be performed without pre- and post-test genetic counselling, psychosocial evaluation and follow-up.
• Before actual testing takes place, there should be free and informed consent.
• In situations where testing children or other persons who are not able to give informed consent is considered, those individuals should be involved in genetic counselling and in the decision-making process, according to their capacities.
• Testing for adult onset conditions in children should only be considered when treatment or surveillance would begin in childhood.

Pre-test genetic counselling

Individuals are informed about the purpose of the test, including:

• Up-to-date, reliable description about symptoms and natural history of the disease.
• Prospects of prevention or early diagnosis and treatment.
• Inheritance pattern.
• The risk of disease, available reproductive choices, reliability and limitations of the test concerned, and possible psychological impact and other consequences of the test result to the person and their relatives.
• Privacy and confidentiality of the results, as well as possible consequences related to its disclosure to third parties, such as insurance companies and employers, are discussed, when appropriate.
• Pre-test counselling includes discussion about the rights to know and to decide including the right not-to-know.
• Possible uncertainties due to present lack of knowledge are declared.
• Discussion about the need to inform relatives about the test result, as well as the best ways to do this, are initiated, especially in conditions where early diagnosis may improve the prognosis.
• Written materials and/or reliable Internet addresses related to the subject should be offered when available.
• A written summary of the discussion should be offered.

Post-test genetic counselling

• After disclosure of test results, the first focus is on the emotional impact on person and others involved.
• If necessary, follow-up contacts with the genetic counselling unit should be offered, and/or a consultation with a psychologist.
• The possibility to contact a social worker and patient support organisations should also be offered.
• A written summary of the test result and issues discussed should be given.
• Implications to the individual (including a follow-up plan, when relevant) and their near relatives should be discussed
• A strategy to inform relatives should to be discussed. Written material to help the counselee to spread the information in the family should also be offered.

• 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.²
• 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 fertilisation 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.³
• 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.