Genetic/genomic counselling is central to the speciality of Clinical Genetics. Given the complexity of genetic concepts, inheritance patterns, familial risk, and the psychosocial impact of diagnosis, effective counselling is vital for patient care. This article provides an overview of genetic counselling and its application in clinical genetics as a specialism.
What is Genetic Counselling?
Effective patient counselling is an important element of healthcare. It empowers patients to make informed decisions about their health, enhances their understanding of treatment plans and concerns, supports their autonomy, and fosters trust and rapport in the clinician–patient relationship.
In the speciality of Clinical Genetics, the complexity of genetic information, various inheritance patterns, multiple testing outcomes, and the rarity of many conditions necessitate effective communication and counselling. Such practices help patients and families understand their genetic risks or conditions, make informed decisions about future management, and feel supported as they adapt.
Genetic counselling is the process of helping people understand and adapt to the genetic, medical, psychological, and familial implications of the genetic contributions to disease. For patients, genetic counselling means talking with a genetics specialist to help them understand a genetic condition that runs in their family. This could be with a Clinical Geneticist or a Genetic counsellor. Often, when the genetic diagnosis has been made, particularly in the mainstream setting, a genetic counsellor will meet with the patient and family to explain their genetic result, natural history of the condition, inheritance, and signpost to organisations for support.
Predictive/ Presymptomatic Genetic Testing
The speciality of clinical genetics is the only speciality which facilitates presymptomatic/predictive genetic tests for patients A predictive test can provide information about whether someone will develop or is likely to develop a specific condition, often later in life and first requires identifying the genetic alteration in the affected relative. Presymptomatic testing is often facilitated by genetic counsellors for conditions in cancer, neurology, and cardiology, and presents a substantial part of their clinical workload.
What is a Genetic Counsellor?
A genetic counsellor is a healthcare professional trained to assess, interpret, and explain complex genetic information to patients and their families to help them understand genetic risks, conditions, and testing options. They support people in making informed decisions about managing their health or the health of their family, offering compassionate support for the emotional aspects of dealing with such sensitive information.
Genetic counsellors interpret and communicate genetic test results, guiding patients through what a diagnosis means, including:
- how a condition develops,
- the role of heredity in their health,
- the likelihood of passing it on to family members, and
- the options available to manage or reduce potential risks
Their role is also to provide education to other HCPs on the genetic condition and advocacy for their patient.
For example, an individual with a pathogenic BRCA gene alteration may consider enhanced screening, such as breast MRI and mammography, or preventive prophylactic surgeries such as a risk-reducing mastectomy or bilateral salpingo-oophorectomy to manage their increased risk of breast and ovarian cancer. A genetic counsellor helps patients explore these choices and, where appropriate, refers them to surgical teams for further discussion.
Beyond interpreting complex genetic information, genetic counsellors provide clarity, support, and guidance through sensitive and often emotionally challenging decisions.
What does a consultation with a Genetic Counsellor involve?
A consult with a genetic counsellor may include:
- Gathering a medical history relevant to the condition in question
- Taking a detailed family history
- Assessing which genetic or genomic test is most appropriate
- Evaluating the risk of inheriting or passing on a condition
- Explaining the significance and implications of test results or diagnoses to patients and their families
- Using counselling skills to communicate sensitively, considering cultural, linguistic, and ethical considerations
Clinical geneticist and genetic counsellors work in close collaboration in the workforce of clinical genetics. As well as clinically diagnosing patients with genetic conditions and arranging management, clinical geneticists will counsel patients and families on their genetic condition in consultation. Therefore, effective genetic counselling is also an important part of their role.
What specialties does Clinical Genetics work with?
Clinical genetics works in close collaboration with specialities such as oncology, surgery, cardiology, neurology, paediatrics, fetal medicine, immunology, endocrinology, metabolic medicine, ophthalmology, and nephrology. Effective genetic counselling is essential across these fields, and as a result, clinical geneticists and genetic counsellors often develop expertise aligned with these areas within the clinical genetics service.
Case Scenarios
The following are examples of referrals to the Clinical Genetics service for genetic counselling
Case Scenario 1
21-year-old Laura has a strong family history of breast and ovarian cancer. She has recently learnt that her mother has had genetic testing with her breast surgeon, which has identified a gene alteration in the BRCA2 gene. Laura is referred to her local Clinical Genetics Unit, as she also wishes to be tested for the BRCA2 gene alteration.
Laura has met with the genetic counsellor, who discusses the BRCA2 gene, cancer risk associations and figures, options to manage her risk should she be found to have inherited the gene alteration, autosomal dominant inheritance, and reproductive/prenatal options, and how this result would impact her psychosocially. The genetic counsellor also explores her motivation for testing at this point in life, and whether she is prepared for a positive result.
Case Scenario 2
16-year-old Lucy is referred for genetic counselling with a recent genetic diagnosis of Charcot-Marie Tooth Disease Type 1A with neurology, caused by a pathogenic duplication of chromosome 17p12. Lucy meets with the genetic counsellor to discuss her condition, how this occurred, the outlook for the future, MDT management, the inheritance of this condition, and reproductive/prenatal options available to her and a future partner she could consider. This may involve pre-implantation genetic diagnosis (PGD), which is a selective form of IVF which screens embryos for the genetic condition in question. Lucy is signposted to CMT-UK in this genetics consultation, an organisation dedicated to supporting individuals with Charcot-Marie-Tooth disease.
Parental testing has also been offered to Lucy’s parents, which confirm that this condition has arisen de novo, and therefore there is a low risk to Lucy’s siblings of recurrence. This low recurrence risk in Lucy’s siblings is communicated and explained as germline mosaicism by the genetic counsellor.
Case Scenario 3
33-year-old Ava (currently pregnant) and her partner Josh are referred by their midwife due to a paternal family history of cystic fibrosis (CF), an autosomal recessive genetic condition caused by alterations in the CFTR gene, with a high carrier frequency in the white British population of approximately 1 in 25 individuals. Josh has an affected relative with CF and is a confirmed carrier.
Ava and Josh meet with the genetic counsellor to discuss the risk of CF to the pregnancy. During the consult, the genetic counsellor confirms Ava’s ethnicity as White British and communicates the carrier frequency. Following discussion of risk and options with the genetic counsellor, it is decided for Ava to have carrier testing for common alterations in the CFTR gene to see if she is also a carrier, to determine whether the baby is at risk of having Cystic fibrosis. Ava is confirmed as a carrier during their pregnancy, and the genetic counsellor explains recessive inheritance to the couple, that there is a 1 in 4 chance that the baby is affected by the condition. Knowing this risk, the couple opt for prenatal genetic testing via amniocentesis. The result of the amniocentesis returns, and the pregnancy is confirmed not to have inherited both CFTR alterations, and is therefore not affected by CF.
Case Scenario 4
40-year-old Sam and his wife are referred from the Inherited Cardiac Conditions service following the sudden and unexpected death of their 20-year-old son. Following molecular autopsy at post-mortem, a genetic alteration in the gene KCNQ1 was identified from a sample of spleen tissue that underwent genetic testing. This confirms a genetic diagnosis of Long QT syndrome in their late son. Sam and his wife have other children who they are now worried about.
They meet with the clinical geneticist/genetic counsellor to discuss testing for themselves and other children and learn about the inheritance and implications of this genetic result. Once genetic testing has been arranged for the family, should they also have the same alteration in KCNQ1, they will be kept under close surveillance with cardiology in the management of this result.
Written by: Lydia Williamson (Trainee Genomic Counsellor)
Reviewed by: Claire Radford (Genetic Counsellor)
