Genetic Services - aims, process and outcomes of genetic counselling

Author: C. Patch
Submitted: Tuesday 26th of June 2012 02:46:30 PM
Submitted by: egf
Language: English
Content type: Learning resource
Educational levels: expert, qc2, qc3



In the past twenty years the demand for clinical genetic services and genetic counselling has increased enormously alongside the major advances in genetic science. Although accurate genetic counselling relies on a firm medical diagnosis, accepted definitions of genetic counselling also emphasise the educative and counselling components. There may seem to be little in common between the science of genetics and counselling. Individual genetic counselling clients will often have questions and concerns about a genetic illness that could be important for themselves or their families. They may not only require information that is technically correct, but also some assistance to understand the information provided and to appreciate its relevance to their own lives, values and emotional reactions. Genetic counselling can act as a bridge between the science of genetics and the understanding and feelings of its clients. Genetic counselling is a communication process that deals with the occurrence, or risk of occurrence, of a (possibly) genetic disorder in the family. The process involves an attempt by appropriately trained person(s) to help the individual or the family to (1) understand the medical facts of the disorder; (2) appreciate how heredity contributes to the disorder and the risk of recurrence in specified relatives; (3) understand the options for dealing with the risk of recurrence; (4) use this genetic information in a personally meaningful way that promotes health, minimizes psychological distress and increases personal control; (5) choose the course of action which seems appropriate to them in the view of their risk and their family goals, and act in accordance with that decision, (6) make the best possible adjustment to the disorder in an affected family member and/or to the risk of recurrence of that disorder’ (Eurogentest 2009). Genetic counselling should always be based on a diagnosis that is as accurate as possible. This increasingly involves interpretation of complex genetic analyses. The activities that take place within a counselling session include: • Taking a family medical history which is necessary to provide reliable information • Giving and interpreting genetic information with skill, presenting it in a non-judgmental way. • Supporting the patient or client particularly when they are making difficult decisions or at times of stress related to their genetic issues. In the UK, most genetic counselling in provided in Regional Genetic Services by multi-disciplinary teams including medically trained specialist clinical geneticists and genetic counsellor colleagues. These colleagues are supported by laboratory scientists. Genetic diagnoses are usually made by clinicians - clinical geneticists or other medically qualified doctors - but clients can often be helped by discussions with non-medical genetic counsellors. In this session we will introduce the framework of genetic counselling and put it into context with the aims of this course. Eurogentest (2009) Recommendations for genetic counselling related to genetic testing. (accessed 5th April 2012).


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Original version - English

abstract Patch_Genetic_Services_aims_process_and_outcomes_5191.pdf

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C. Patch. Genetic Services - aims, process and outcomes of genetic counselling. EUROGENE portal. June 2012. online:



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