Genetic counselling

What do genetic counsellors do?

Genetic counsellors are specially trained healthcare professionals. Most have a postgraduate qualification in genetic counselling and may also have a nursing or scientific background. Genetic counsellors work very closely with clinical geneticists. Clinical geneticists are medical doctors who have trained specifically in genetics, their work focusses on diagnosing genetic conditions.

Genetic counsellors support families by offering more information.

Once a diagnosis is made, genetic counsellors support families by offering more information. This will include information about the inheritance of the condition in the family, identifying who in the family is at-risk from the condition and arranging testing for the condition. They have an extensive knowledge of genetic disease and its implications, both in terms of health and psychology.

One of the many roles of a genetic counsellor is to guide a person through the process of ‘predictive’ genetic testing. This is where a person has a risk of having a particular genetic variant that could pre-dispose them to developing a condition in the future. The genetic counsellor’s role is to ensure the person is informed and prepared for what the results of the predictive test might mean for them and their family. The genetic counsellor would also organise health screening on the basis of the result, for example, for women with a predisposition to breast cancer, the genetic counsellor would organise a mammography and/or MRI scan.

People seeking genetic counselling may be:

• patients newly diagnosed with a disease that may have a genetic cause
• new parents or couples planning a pregnancy
• people with a family history of a genetic disease, concerned that they have inherited it and/or could pass it on to their children.

Genetic counsellors form a key part of the genetic testing process. At the beginning of the process, a genetic counsellor will help prepare the patient for what they may find out and discuss with them what their next steps could be when they get the results of a genetic test. They answer questions and help patients to come to an informed decision about whether or not they want to have a particular genetic test and how they might want to manage their care after the test results. For example, if they would want to have regular screening for a disease.

If a patient decides to have a genetic test, a genetic counsellor is there to explain the results.

If a patient decides to have a genetic test, a genetic counsellor is there to explain the results and support them to come to terms with how it may impact their life and what the implications will be for other family members. Genetic counsellors can also provide information and support to family members, to help them to discuss this further in the family and identify who else might be at risk.

How does it work?

Counsellors work as part of a wider healthcare team” involving clinical geneticists, diagnostic laboratory staff and other health professionals, for example oncologists, paediatricians, obstetricians. Most people are referred to a genetic counsellor through their doctor or hospital consultant, if they have recently been diagnosed with a disease that may have a genetic component or if they are pregnant and want to discuss an abnormal test result following a prenatal screening test. Others may seek the help of a genetic counsellor after learning of a genetic condition in the family. All individuals will meet with their clinical geneticist or genetic counsellor prior to their genetic test to discuss the potential results, risks, benefits and limitations of such a test.

The way genetic counselling works depends on why an individual has been referred to them. It may involve:

• looking at the family medical history and drawing up a family tree
• assessing the risk two parents have of passing on an inherited condition to their child
• discussing different genetic tests and arranging them if appropriate
• providing support and information if a child or family member has been diagnosed with an inherited condition
• helping someone to understand the results of genetic tests and what they mean
• providing information about patient support groups.

Non-directive counselling

One of the key characteristics of genetic counselling is that it is non-directive. This means that the genetic counsellor supports the patient as they reach their own decisions about their future, rather than making the decisions for them.

Genetic counselling isn’t a form of classical psychological counselling or psychotherapy.

Genetic counselling isn’t a form of classical psychological counselling or psychotherapy. It is the sensitive delivery of information about someone’s genetics, tailored to the individual’s psychosocial needs. Most consultations involve a lot of practical discussion about what a condition is, how it can be managed and how it is passed on in a family. This medical and scientific information is delivered at a measured pace, so as not to overload the patient, using good communication skills. Genetic counsellors do have some training in counselling therapies but what they do is a skill in its own right. They ensure that there is an appropriate balance of information whilst also helping patients to manage the inevitable emotions that a diagnosis of a genetic disease can bring, such as guilt, blame, grief and fear.

The range of issues and questions faced by individuals following a genetic test are broad.

No two patients are the same so genetic counselling has to be very sensitive to the fact that a diagnosis can mean very different things to different people. The range of issues and questions faced by individuals following a genetic test are broad. Some individuals may discover they have a genetic variant for a disease that will not present symptoms until later life, others may find they are carriers of a gene that, if passed to their children, could lead to them developing a condition. Others could find out a gene is responsible for an ongoing, undiagnosed condition they have been suffering with for years. As a result, genetic counselling has to take place very much on a case-by-case basis.

Genetic counselling for prospective parents

Genetic counsellors often see people who have or are carriers of a genetic disease and want to have children. Genetic counsellors can work with these individuals to assess the risk of them passing a condition on to their child and discuss what options there are for them and their child. These may include pre-implantation genetic diagnosis using assisted reproductive technologies (where an embryo undergoes a gene test) or pre-natal testing during pregnancy.

During IVF, a woman takes hormones so that she can create multiple eggs which are then surgically removed from her ovaries.

Pre-implantation genetic diagnosis involves using in vitro fertilisation (IVF). In this process a woman takes hormones so that she can create multiple eggs which are then surgically removed from her ovaries. These eggs are combined with her partner’s sperm in the laboratory, and then the resulting embryos are tested to explore particular genes of interest. When there is a risk of a serious genetic disease in the future child, for example, if both parents are carriers of a particular genetic mutation, pre-implantation genetic diagnosis (PGD) can be used to test the embryos and ensure that only those without the serious genetic disease are implanted back in the mother. This technique brings with it a number of legal and ethical issues because of worries that it could be used to select for other characteristics, not related to disease, like intelligence.

Keeping up to date

Genetics is a very fast-paced and rapidly evolving area of scientific research. However, it is a field that brings with it a number of ethical challenges. Currently there are still many genetic diseases that do not have a definitive cure so decisions for recently diagnosed patients and their doctors aren’t always straightforward. It is therefore essential that genetic counsellors keep up-to-date with current genetic research to be able to provide their patients with the most accurate information and best care possible.