Genetic counselling: Answering the questions after the diagnosis

Coming to terms with a genetic illness in the family can leave a person with many questions. What does this mean for me? What does this mean for my child? Will my family be affected?

Genetic counsellors support people in finding answers to the difficult questions that may arise. These specially trained professionals help individuals and families with a diagnosis or risk of a genetic condition to understand better what this means for them.

"Genetic counsellors are uniquely trained to have advanced knowledge of genetics and genomics and to use a communication style with a lot of compassion and empathy to support people," says Rosie O'Shea, a senior genetic counsellor from Kerry who works as an associate lecturer in genetic counselling at the University of Technology Sydney.

It's really about empowering patients

“The patients are the people who have to understand the impact of their genetic information and also share it with their families. Genetic counsellors have to make them the expert when it comes to being able to ensure that the genetic information is of benefit to the wider family.”

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O'Shea, who previously worked as a genetic counsellor in several hospitals in Ireland, adds that genetic counsellors provide information in a non-judgmental and non-directive way to help patients make their own decisions. "It's really about empowering patients."

Despite its title, genetic counselling differs greatly from psychological counselling, as Jackie Turner explains. "Genetic counselling is about trying to explain the condition, how it's inherited and explain any genetic testing results and also to ensure that people as a family understand what is happening," says Turner, a genetic counsellor at the Clinical Genetics Centre for Ophthalmology at Dublin's Mater hospital.

Counselling session

A genetic counsellor will usually first gather information about a person’s family history. This information allows them to provide an explanation of the underlying cause of the genetic condition in the family and discuss how it’s inherited. They will go through potential implications for the patient and discuss the benefits and limitations of the tests available.

“There can be lots of uncertainties when it comes to genomic testing,” says O’Shea. “Genetic counselling ensures people are prepared in a realistic way for what genomic testing can offer them, but also the limitations of testing as well.”

If test results are already available, these will be discussed.

A key aim of genetic counselling is to dispel fears that patients and their families have about a genetic illness. “To prepare for a genetic counselling session, we like people to write down their questions before they come to see us. We work through those in the clinic and try to answer them as best we can,” explains Turner.

“Sometimes it’s important to go through what the prognosis is. It takes a little while for people to be ready for that conversation. The internet contains lots of useful information but people need to be quite careful that they aren’t reading stuff that isn’t true.”

Following a session, summary letters are provided to patients for sharing with family members, who may also decide to see a genetic counsellor. As it’s often difficult for patients who have just been diagnosed to contact their relatives themselves, genetic counsellors can assist in the process.

Purpose of the practice

Individuals and their families may attend genetic counselling following a confirmed diagnosis of a genetic condition. If there is a history of genetic conditions in a family, such as a hereditary form of cancer or illnesses such as Huntington’s disease or cystic fibrosis, a person may also receive genetic counselling. This allows them to discuss their likelihood of being affected and assist them in deciding whether to get tested.

Sometimes couples attend genetic counselling in an attempt to explore whether a genetic condition will affect their pregnancy outcomes. While embryologist and trained genetic counsellor Dr Tim Dineen doesn't work as a counsellor, he incorporates his training into the consent process at Waterstone Clinic. If a couple he's working with decide that they want to have fertility treatment, they are referred for an independent genetic counselling session.

“As part of the session, they will go through reproductive options and discuss what’s out there for them to maybe reduce the risk of that condition,” says the senior clinical embryologist and laboratory manager at Waterstone Clinic.

Joanne’s father-in-law was diagnosed with a late-onset genetic disease just as she and her husband were preparing to start a family. As a result, they attended genetic counselling sessions. “The purpose of the genetic counselling was all about my husband primarily. Do you want to get tested? Do you feel the need?” she explains. “Fundamentally, it was about what are you going to do with the [test] information when you have it.”

While Joanne’s husband chose not to get tested following the counselling sessions, the couple opted for Preimplantation Genetic Diagnosis (PGD) when they decided to start their family. This enables couples to reduce the risk of passing a genetic condition on to their children.

The situation in Ireland

There are just 16 genetic counsellors working publicly and privately in Ireland. The Department of Clinical Genetics at Our Lady's Children's Hospital, Crumlin is the main service provider. According to a spokesperson, it has "5.3 whole-time equivalent genetic counsellors". Some 40 per cent of its genetic counselling sessions relate to hereditary cancers, with others concerning rare diseases (30 per cent), cardiac problems (20 per cent) and cystic fibrosis (10 per cent). While urgent cases are seen to within a fortnight, the "soon" and "routine" waiting times are 14 and 24 months respectively.

Genetic counselling is embedded into some hospital departments. For example, the Cancer Genetics Service at St James's Hospital employs three trained genetic counsellors and three genetic nurses who carry out a similar function, according to the consultant medical oncologist and consultant medical geneticist, Prof David Gallagher.

Turner’s work as a part-time genetic counsellor is part of the Target 5000 project. Funded by Fighting Blindness, this study is looking for the genetic basis of inherited retinal eye disease. DNA samples of each person tested are sent to a research lab at Trinity College Dublin, where scientists look at whether gene variants are or could be disease-causing.

“Once the research result comes back, it then has to be confirmed by a diagnostic lab. When that happens, I get the list of those results and my job is to see patients for genetic counselling,” explains Turner, who worked as a genetic counsellor in Crumlin for 17 years.

As there is normal genetic variation in every population, Turner first meets the consultant ophthalmologist and the consultant clinical geneticist to establish if the gene variant really explains the patient’s diagnosis.

You really do need one main centre to ensure people and their families are getting the best service possible and that is directing the research around genetic conditions

So, how can the profession be improved in Ireland? “I think the idea that there is one single genetic/genomic centre would be very useful with a network of smaller centres perhaps in each main hospital,” says Turner. “You really do need one main centre to ensure people and their families are getting the best service possible and that is directing the research around genetic conditions.”

Recognition of the profession is also important, according to Turner. At present, genetic counsellors in Ireland are registered in the UK or at a European level.

“Formal professional recognition of the genetic counselling profession in the Irish health system is needed in order to recognise the unique skills a genetic counsellor brings to the medical team,” echoes O’Shea.

“We need to ensure patients are getting access to genetic counsellors, that the information they are getting about genetic and genomic testing is reliable, and protect the public from accessing testing without that information.”

The Government needs to fund a genomics strategy that includes provision for genetic counselling training and employment of genetic counsellors in the different mainstream models of healthcare, adds O’Shea.

Indeed, as there’s no course available here, Irish people must travel abroad if they wish to train as genetic counsellors.

“For a course to be run, you really need a clinical genetics department that isn’t overworked, that has the time devoted to training. Unfortunately, we don’t have one of those at present in Ireland. We have a very overworked department over in Crumlin hospital. There are too few consultant clinical geneticists and too few genetic counsellors for the population,” says Turner.

Psychiatric genetic counselling

A growing body of genetic research is solidifying our understanding of the genetic factors underlying many psychiatric disorders. For example, the heritability of schizophrenia is estimated to be 80 per cent. Meanwhile, decades of twin studies have helped to establish that anorexia nervosa is 50-60 per cent heritable.

An understanding that a combination of genetic and environmental risk factors can contribute to a psychiatric condition can help those experiencing these illnesses when communicated in an appropriate manner. This is where psychiatric genetic counselling comes in.

Neuropsychiatric geneticist at the University of British Columbia and psychiatric genetic counsellor Dr Jehannine Austin established the world's first specialist Psychiatric Genetic Counselling clinic in Vancouver in 2012.

There is no single factor that is both necessary and sufficient for solely being the cause of somebody's condition

“When you are talking about psychiatric disorders, there is so much guilt, shame, blame, fear and stigma that goes along with those conditions. People feel all of those emotions about their own explanations for what caused it,” she says.

Psychiatric genetic counselling is about using the evidence base that we have accumulated regarding what actually contributes to the development of these illnesses to try to mitigate some of these feelings for people, she adds.

“We go to great pains in this situation to make sure that people understand that there is no single factor that is both necessary and sufficient for solely being the cause of somebody’s condition.”

As there are few specialised psychiatric genetic counselling clinics in existence yet, most genetic counsellors aren’t exposed to these conditions while training. Austin holds intensive two-day workshops for qualified genetic counsellors to fill in these gaps. While Irish people have attended them, a specialised psychiatric genetic counselling service is yet to be established here.

It's a very isolating, lonely and scary time. It puts a lot of strain on a family

Louise O’Keeffe from Swords waited two years to see a genetic counsellor following the diagnosis of her daughter’s rare Neurofibromatosis Microdeletion syndrome. “When she got this diagnosis, I was told I would be put on the waiting list to see a genetic counsellor,” explains O’Keeffe, whose daughter was diagnosed aged three following years of poor health.

Though saying that genetic counselling is beneficial in promoting understanding of an illness and noting the kindness of the counsellor whom she met, O’Keeffe says she had educated herself about her child’s condition during this waiting period. “It’s a very isolating, lonely and scary time. It puts a lot of strain on a family.”

Many other parents face similarly long waits, says O’Keeffe.

Laura Egan’s daughter was diagnosed with Koolen-de Vries syndrome after 11 years of searching for a diagnosis. Egan waited six months for a genetic counselling appointment. However, as the condition is so rare, the information provided was limited.

Recognising the barriers to information and support faced by parents, O'Keeffe and Egan founded an online support group for parents of children with rare diseases called Rare Ireland. This group, which has 400 members experiencing 300 rare conditions, has applied for charity status. "At no point can anyone give you the same support as a parent who has been where you are," says Egan, who lives in Athlone.

Samantha Kenny from Kildare found the group extremely supportive following the diagnosis of her daughter's Wolf Hirschhorn syndrome. While she met "a very sympathetic and respectful" genetic counsellor two weeks after diagnosis, she also found there was limited information available. "Finding groups like Rare is amazing because even if not everyone is experiencing the same condition as you, they're going through a similar journey."

Elsewhere, others are also working to break down barriers faced by those experiencing rare conditions. Websites such as RareConnect also help to connect rare disease patients and families.

In her other role as information scientist at the Rare Disease Office, Turner is working on a mapping project which maps out centres of expertise for specific rare conditions. Done through the Orphanet portal, this can benefit both clinicians and families affected by rare conditions.

Meanwhile, the establishment of European Reference Networks (ERNs) is helping to close current gaps in knowledge. Launched by the European Commission in 2017, it brings experts from around Europe together to make decisions on diagnosis and care plans.