Every doctor will need at some stage to answer questions relating to the hereditary nature of diseases and discuss relevant issues with the patient.
A patient should be referred to a medical genetics unit for genetic counselling when hereditary issues require further investigation or expertise, for example when
a condition occurring in family members or relatives is suspected to be genetic and the diagnosis is not clear
a genetic condition, often very rare, has been diagnosed in the family about which it proves difficult to find further information
the disease of or the genetic change found in the patient induces the need to counsel or investigate his/her relatives
the significance of the genetic change found in the patient or in the patient's family is unclear and requires further interpretation
considering genetic testing to predict future morbidity, or carrier or foetal diagnostics, or preimplantation genetic testing, due to a genetic change or disease identified in the family.
Find out which professions are locally trained in genetic counselling (e.g. clinical genetics specialists/medical geneticists, genetics nurses).
Principles
Genetic counselling, as defined internationally, is a treatment process whereby people are helped to understand and adapt to the genetic causes of disease and their medical effects, psychological effects and effects on family and relatives.
The process involves assessing one's own and relatives' medical history to consider the risk of disease, providing information about heritability, genetic laboratory tests, treatment and prevention possibilities, resources and research, and personal counselling to help one make the best choices and adapt to the disease or its risk.
Providing information about genetic testing and its results is not genetic counselling, but the results of a diagnostic genetic test or a broader genetic analysis may be an indication for it.
Predictive testing for severe diseases in a healthy individual always requires actual genetic counselling in specialized care, and genetic testing is only done in conjunction with it.
The role of a medical geneticist or another professional providing genetic counselling is to be an expert, and he/she does not make decisions relating to, for example, family planning, prenatal diagnosis, carrier testing or predictive testing. Instead, he/she helps the counsellee to find individually the best option and supports the counsellee at different stages of the process.
The patient's treating doctor may provide counselling about risks, diagnostic investigations and prevention possibilities in more common, often multifactorial diseases, such as
It is not always possible to provide genetic counselling as a part of routine patient care as especially questions related to heritability, assessment of family information, and possibilities of family planning may require extra time and concentration. The physician must therefore decide individually for each patient whether his/her own resources are adequate to deal with the genetic matter in question.
The work of a medical geneticist
The first step in genetic counselling is to make or confirm the exact aetiological diagnosis.
In many cases, the diagnosis of a rare disease requires the use of special data sources and genetic tests that a medical geneticist has expertise on.
If possible, the inheritance pattern and the risk of recurrence should be explained to the family as clearly as possible and the situation further discussed with the counsellees.
Even in situations where the condition remains undiagnosed it is usually possible to give an estimation of the condition's presumed inheritance pattern and the risk of recurrence.
If a couple is planning to have children, the possibility of prenatal diagnosis or preimplantation genetic testing may need to be considered.
In many genetic diseases and predispositions predictive gene testing may come into question.
The geneticist may also assist in the treatment planning, particularly if the condition is very rare. Even for more common diseases and predispositions - such as hereditary susceptibility to cancer - prevention and follow-up aiming for early diagnosis of problems may be planned on an individual basis based on genetic findings or genetic risk estimated from family information.
Genetic counselling aims to give up-to-date, unbiased information and to clarify facts based on which the family will make their personal decisions in accordance with their own judgment. Supporting the patient and family in making decisions and adapting to the disease or its risk is a key part of genetic counselling.
Indications for a referral to genetic counselling
A child with a rare disease, developmental disability or disorder the diagnosis of which is not clear, and the parents would like to clarify the diagnosis.
Family members or relatives are affected by a genetic disorder or predisposition whose diagnosis is open or about which further information is requested.
A couple wishing to have a child are concerned about the recurrence risk of a genetic condition.
The possibility of prenatal diagnosis or preimplantation genetic testing of a disease or developmental disorder is being considered.
Carrier testing or predictive testing is planned to be carried out in members of a family with a known genetic condition.
The interpretation of the results of genetic analysis carried out elsewhere requires further evaluation.
Any other cause related to a hereditary disease or predisposition that leads to the patient needing help or support.
Internet sites with information about genetic diseases
OMIM (Online Mendelian Inheritance in Man) database http://omim.org
A list of diseases known or suspected to be genetic
Clinical descriptions of diseases with information on their genetic testing
Find out about local sites.
References
Elliott AM, Friedman JM. The importance of genetic counselling in genome-wide sequencing. Nat Rev Genet 2018;19(12):735-736. [PubMed]
Patch C, Middleton A. Genetic counselling in the era of genomic medicine. Br Med Bull 2018;126(1):27-36. [PubMed]
Skirton H, Goldsmith L, Jackson L, et al. Quality in genetic counselling for presymptomatic testing--clinical guidelines for practice across the range of genetic conditions. Eur J Hum Genet 2013;21(3):256-60. [PubMed]
European Society of Human Genetics. Genetic testing in asymptomatic minors: Recommendations of the European Society of Human Genetics. Eur J Hum Genet 2009;17(6):720-1. [PubMed]
Forrest LE, Delatycki MB, Skene L, et al. Communicating genetic information in families--a review of guidelines and position papers. Eur J Hum Genet 2007;15(6):612-8. [PubMed]
National Society of Genetic Counselors' Definition Task Force, Resta R, Biesecker BB, et al. A new definition of Genetic Counseling: National Society of Genetic Counselors' Task Force report. J Genet Couns 2006;15(2):77-83. [PubMed]
American Society of Human Genetics Board of Directors, American College of Medical Genetics Board of Directors. Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. American Society of Human Genetics Board of Directors, American College of Medical Genetics Board of Directors. Am J Hum Genet 1995;57(5):1233-41. [PubMed]