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How can a genetic diagnosis impact mental health?

By Florence Cornish on

When we think about receiving a genetic diagnosis, we tend to consider the impact it will have on physical health or treatment. However, it is also important to consider the impact it can have on mental health, both for the person directly affected and their wider family.

Last year for Mental Health Awareness week, we released a podcast about the impact of a genetic diagnosis on mental health.

We spoke to Kym Winter, Clinical Director and founder of Rareminds, Helen Dolling, researcher at the Centre for Family Research at the University of Cambridge, and Melanie Watson, Lead Genetic Counsellor for the Wessex Clinical Genetic Services.

This blog runs through the key questions and talking points from that podcast.

First things first, how are diagnoses received?

A diagnosis can be received in a number of ways. Sometimes it can very unexpected or in a very intense environment, other times the situation is much more managed.

For example, if someone is receiving a diagnosis for their child who is in acute care, this will be very different than someone who has a known family history of a condition and has had opportunity to prepare.

Either way, a diagnosis is often life-changing news and there should always be a professional available to answer initial questions, although this is not always the case.

What are the initial challenges of a genetic diagnosis?

The impact of a genetic diagnosis is profound and complicated. It depends on the condition being tested for, but also on the families and individuals themselves.

Some people struggle to process the news of a diagnosis and continue on as normal, choosing not to seek help at first. For others, the diagnosis is a considerable shock and has a big emotional impact, especially if it has come out of the blue.

People may initially feel relieved about getting an answer, but this is often followed by further uncertainty which can be difficult to cope with emotionally. Treatments may or may not be available, and the potential impact it has on wider family or future choices might not be clear right away.

Lots of families wait a long time for a diagnosis, and many will never receive one. The decision to take a genetic test in the first place can take a mental toll on families, whether or not a diagnosis is ever reached.

The effect on mental health and emotions

Receiving a genetic diagnosis can be helpful for people to make sense of their experiences or health difficulties.

It can provide helpful information for the family and open potential avenues for support, such as connecting with others in similar situations.

For some people, depending on their condition, a genetic diagnosis can involve coming to terms with a different future than they might have imagined, for themselves or their children. This can bring a range of difficult feelings, such as grief, loss, and worry about what the future might hold.

Some rare conditions themselves also impact cognitive or neurological function, which can have additional implications for mental health too.

Dealing with the uncertainty

Living with uncertainty is a common challenge for those dealing with a genetic diagnosis.

Rareminds is a non-profit organisation that advocates for specialist mental health support for the rare disease community, providing counselling and psychotherapy to people affected by rare conditions.

Kym Winter, Clinical Director and founder of Rareminds, speaks about the work of the organisation and the significance of receiving a diagnosis.

We run ‘dealing with diagnosis’ workshops, and when we first started running them, we assumed those signing up would be up to a year or so post-diagnosis. What we found was that people were wanting to sign up for them, perhaps 1, 2, 3, 4, or maybe 5 years, post-diagnosis, because they had not really had the opportunity to process its emotional impact, and its significance in their life. The experience of receiving a diagnosis, and the skill and sensitivity with which it is delivered, casts a long shadow.”

Kym Winter

Clinical Director and founder of Rareminds

What kind of support do parents need at diagnosis?

Different parents have different needs, and this can depend on several factors.

Both practical and emotional support is needed to help parents take on the news, and to understand how it will fit into their family life.

New parents can face even further challenges, as they are still learning how to accommodate for a new dependent person in their relationship. News of a genetic diagnosis for their child on top of this can add further impact to an already significant life change, especially if the child has additional care needs.

What is the best route for accessing help and support?

Different people and families need different types of support for mental health and wellbeing at various points through their journey.

Patient organisations and healthcare professionals can be a good place to start.

Patient organisations provide a range of support for those who are newly diagnosed. This may include information around specific conditions, as well as general emotional support.

Organisations such as Genetic Alliance UK, Gene People and Unique all offer valuable support and can sign-post patients or families to condition-specific and other support organisations.

Genetic counsellors and family

Genetic counsellors are trained to work with patients and families to provide information and support that helps them make health decisions. This includes understanding how a diagnosis impacts health and decision-making in family planning.

When genetic counsellors first see someone who has received a diagnosis, they spend time around how it has impacted the family.

Different people in the family may have different approaches to dealing with the news. Where some may not wish to talk about it and to deal with problems as they arise, others may want to extensively research and learn all there is to know about the condition.

Psychotherapeutic counsellors and psychologists are trained to support mental health and wellbeing more generally.

For those diagnosed with a rare genetic condition, this might include support to help manage the impact on personal identity, family or couple dynamics, cope with uncertainty, manage symptoms such as pain or anxiety, and make complex life choices.

Managing the stigma around mental health

Stigma surrounding mental health and support is still prominent.

For many parents and families, crossing that barrier to ask for help is a major milestone. Even the word ‘support’ in itself can feel negative for some people.

Organisations like Rareminds are trying and normalise the psychological and emotional impact of receiving a genetic diagnosis, and the need for mental wellbeing support.

They deliver counselling and wellbeing support in partnership with patient organisations, and have recently launched a free new ‘Wellbeing Hub’ in Mental Health week on their website.

This hub provides psycho-educational resources on a range of issues Including Dealing with Diagnosis, Coping with Uncertainty, Change and Loss, and Relationships.

And finally...

To hear the full conversation, listen to our podcast on the impact of a genetic diagnosis on mental health.

You can also visit the Rareminds website to learn more about the work they are doing to support the rare disease community. You can also read their 2023 ‘Rare Minds Matter’ Mental Health Survey Report released earlier this year.

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