Families requiring access to genetic testing and clinical genetic expertise are facing significant challenges due to long waiting times and lack of access, a new report has found.
A research team in UCD examined current Irish clinical genetic services over a two-year period, commissioned by The Adelaide Health Foundation.
The report gave eight recommendations including ensuring families get timely access to clinical genetics expertise.
They were: The creation of a national genetic testing directory, ongoing HSE support and investment in clinical genetics teams, formal recognition of the genetic counselling profession, and a centralised, digitally accessible HSE laboratory to allow genetic testing visibility across labs and clinicians.
Principal investigator of the report, Professor Sally Ann Lynch, said the study highlights "the imperfect system staff are currently working in".
Róisín Costello and her husband Ross were expecting their first child in 2020 but unfortunately, he died just half an hour after being born.
The couple had already had one miscarriage.
We need your consent to load this rte-player contentWe use rte-player to manage extra content that can set cookies on your device and collect data about your activity. Please review their details and accept them to load the content.Manage Preferences
Genetic testing was carried out on Ross Jr and his parents.
They were told that Ross Jr had a condition called 22Q but genetic testing had shown that neither Róisín nor her husband had this gene.
22Q, also known as DiGeorge syndrome, is a condition where a small part of chromosome 22 is missing, causing several body systems to develop poorly.
'We were broken'
They were advised they could continue to get pregnant even after six miscarriages, and the deaths of their sons Ross Jr and Reilly.
"My husband and I were devastated by this point," Ms Costello said.
"We were devastated. We were broken.
"That absolute misery that came with that grief, how it affected us physically, mentally, emotionally, spiritually, socially. It broke us."
The couple decided to give it one last try.
Ms Costello was 18 weeks' pregnant with her ninth pregnancy when they found out that there was an issue with their son Oisín’s kidneys.
This was very similar to an issue that Ross Jr had.
"The whole way through our pregnancy, once we were told there's something not right with his kidneys, we were reassured by every staff member saying this is not 22Q, this is something different," said Ms Costello.
When Oisín was born, he had several medical issues.
The neonatologist told the family that something did not add up and asked if could she run genetic testing on them again.
"They said it just didn’t paint a picture of nothing genetic going on," Ms Costello said.
"My fears while I was pregnant of losing another child and burying another son, were extremely real"
Ms Costello, her husband, and son Oisín all underwent genetic testing.
In the meantime, Oisín was transferred to care in Children’s Health Ireland in Temple Street.
"What was really frightening was the day that the doctor came in and explained to us that 'you probably suspect already that your son Oisín has 22Q'," said Ms Costello.
"I was absolutely devastated and shocked and nearly a little sharp with the staff in Temple Street when I said: ‘No, actually, to be honest, that's the last thing I was expecting'."
She added: "The one thing everyone told me throughout this pregnancy was that this was different.
"All we knew of 22Q is that we lost our first son to 22Q," Ms Costello explained.
She was asking herself in that moment if she was about to lose another son.
Oisín is now 16 months old and lives with his parents and two dogs in Co Galway.
"We subsequently found out that our genetic testing wasn't done exactly accurately," Ms Costello said.
"Actually, the 22Q gene was in our family and therefore we had a 50-50 chance every time we got pregnant that this could happen, that we could have a child with 22Q. That we could have had another Ross Jr.
"That actually, my fears while I was pregnant of losing another child and burying another son, were extremely real," she said.
"What we experienced is that one lab received our son's DNA, a different lab received our DNA.
"Those labs do not run the exact same test to detect the exact same location of the gene which we had in our family."
Ms Costello said that if she had lived in the UK, the mistake in the genetic tests wouldn’t have happened.
In Northern Ireland, no matter where the baby is born all parental samples automatically follow the child’s sample to Belfast.
"I had put so much trust in a system to do the right tests," Ms Costello said.
"If a central lab existed in Ireland, we wouldn't have gone through the pain and loss that subsequently followed after our son Ross Jr was born.
"It would have prevented so many miscarriages, so many years of grief and loneliness."
Specialist knowledge needed to spot errors
Errors in genetic testing can take years to be recognised as specialist knowledge is required.
In Ireland, there are multiple dispatch laboratories within Dublin and Cork as well as ones in Cavan, Louth, Sligo, Mayo, Limerick, Galway, Wexford, Waterford and Kilkenny.
Prof Lynch’s report also identified limited inter-operability between hospital IT systems leading to confusion and possible duplicate tests being ordered.
Speaking on RTÉ's Morning Ireland, she explained that the genetic testing that is done covers conditions such as cystic fibrosis and Huntington’s disease but also breast cancer and sudden death syndrome, which all have a genetic component.
"So, our job is to estimate that risk for individuals within a family," said Professor Lynch.
"And if people are at high risk, offer advice on ways to either prevent the condition happening or else.
"For example, if there's high risk of having an affected child with a serious condition, what reproductive options would be available to them, that's our role."
She added that genetic testing is very expensive with many of the tests costing over over €1,000 per test.
Professor Lynch said that in Northern Ireland, all tests are sent to a lab in Belfast "which is staffed appropriately and has the clinical scientists with the expertise and experience to determine the best test that should be done under the circumstances, and also they can pick up whether the test has been duplicated".
Estimated €1m to €2m wasted on unnecessary tests
In contrast, she said, in the Republic of Ireland, "we have a rather scattergun approach to genetic testing and we're not picking up duplicates because the samples are being dispatched from all over individual hospitals and they're not being just channeled through one centre".
This leads to duplication occurring and that results in an estimated €1m to €2m being wasted on tests being redone unnecessarily.
"A lot of genetic tests are once in a lifetime tests," she said.
"You don't need to repeat them. And what we're noticing is that duplication does occur.
"So, one part of the report looked at one test and we could see a duplication rate of about 6% and a waste for that particular test of about €21,000."
"There is no interconnectivity between different hospitals, IT systems.
"Whereas if it was done in one laboratory and you'd be able to improve there, there are clinical risks associated with the sort of scattergun approach as well, which is a huge concern."
Ms Lynch said that a more centralised approach is needed.
"So, people know what tests are being done and also that there's a better audit trail of a sample so we know where it's gone, and also that the parental samples where possible track with the child samples."
She welcomed the tender put out by the National Genomics and Genetics office saying it will see everything channeled through one office.
The Adelaide Health Foundation, a voluntary foundation focused on advancing and promoting equitable access to healthcare services and education in Ireland has committed €1.5 million towards improving Ireland’s genetic counselling and testing services over the next three years.
The foundation will support projects which improve the patient experience, beginning with an educational focus, including the development of an accredited programme for Health and Social Care Professions and an MSc in Genetics.
The HSE has been contacted for a statement.
