Families who require genetic testing are facing significant challenges in their personal lives and delaying having children due to long waiting lists, new research has found.
Genetic testing and counselling is a preventative specialty which finds changes in genes that can cause health problems. It is mainly used to diagnose rare and inherited health conditions and some cancers.
Some of the common conditions it is used to diagnose include cystic fibrosis, sudden adult death syndrome and Huntington’s disease, among others.
However, a report commissioned by Adelaide Health Foundation, a charity that seeks to promote equitable healthcare access, and conducted by UCD researchers, found delays in accessing testing is having an impact on those who need it.
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One-third of people said it placed tensions on their families and relationships, while almost one-quarter said it had wider implications on their family planning, education and employment plans. The research surveyed 142 members of Rare Diseases Ireland patient advocacy group.
Prof Sally Ann Lynch, consultant geneticist at Children’s Health Ireland (CHI), and the principal investigator of the report, said there was currently a waiting list of about 18 months in her place of work.
“And what we see is it affects family planning. So we get a lot of referrals marked urgent referrals because they’re in their late 30s and are worried about fertility,” she said.
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“But that’s not an urgent referral because a lot of people are in that situation and then sometimes they can have difficulty conceiving after.”
Prof Lynch said the benefit of genetic testing was it created a risk estimation for an individual for developing a specific disease and then they can take actions to prevent it from occurring.
“We can put them into the screening services earlier. If it’s about children, you could look at an egg donor or sperm donor. There are options available to people but a lot of them cost money,” she said.
Prof Lynch added that in other cases, such as certain cardiac conditions, they can be placed on medication to slow the progressions of the disease. For cancers, people are presented with the option of surgery to prevent the cancer from developing.
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The two-year study calls for increased investment in clinical genetics teams; for formal recognition as a specialty profession of genetic counselling; and for a national genetic testing directory to support clinicians and laboratories.
A spokeswoman for the Health Service Executive said the national strategy for genetic and genome medicine in Ireland had key areas of focus, such as “improving infrastructure to support testing, improving access to genomic medicine services including genetic counsellors, and improving genetic and genomic knowledge and education among the public, patients and healthcare staff”.
Earlier this year, the spokeswoman added, approval was given for “a number” of consultant clinical geneticist posts, which are currently being recruited, and three genetic counsellor posts.
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