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Country risks losing consultant to head only genetic testing service for rare fetal abnormalities

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Ireland is at risk of losing the consultant who runs the only genetic testing service for babies with rare fetal abnormalities, just a year after the service was introduced.

r Sam Doyle says she cannot agree to a service that would only be available to certain patients in Dublin, and she has raised concerns about patients being made to pay privately for tests.

The Perinatal Genomics Service at the National Maternity Hospital (NMH) in Holles Street can help mothers who have suffered multiple losses have healthy babies and can significantly improve the quality of life of babies with severe disabilities and rare congenital diseases. .

State-of-the-art technology can now diagnose genetic diseases as early as 20 weeks of pregnancy. Holles Street said that without genetic testing, the same children might go undiagnosed and subjected to unnecessary treatments. A diagnosis can also help parents know if their baby is likely to live or die after birth.

Dr Doyle, a clinical geneticist and consultant biochemist, took a sabbatical from work in Birmingham to set up the service in August 2021. Dr Doyle is one of 15-20 consultants worldwide who practice this sub-specialty of clinical genetics. But the expert said she is now considering returning to the UK as the HSE has not agreed to fund a permanent role in a state-funded national service. At present, Dr Doyle is primarily able to provide the service to NMH patients through a temporary position, funded by Holles Street.

Addressing the Irish IndependentDr. Doyle said she could only agree to a service that would accept families from across the country – not just those who are NMH patients.

“Whether you live in Dublin 4 or Farranfore [if] your baby has an abnormality, you should receive the same treatment. That’s not what we have at the moment, and I’m convinced it’s wrong,” Dr Doyle said.

Of the 400 consultations she performed last year, Dr Doyle said there were several cases where she discovered the baby’s mother or father had a milder version of the same condition. . Sometimes people may have siblings who may be carriers of the same disease who are pregnant but who are patients in a different hospital.

“The fact that I’m sitting with a family member who has a pregnant sister who goes to another hospital in the country, who can’t get what my patient is getting, that’s something I find difficult. I don’t think inequity is right.

“I sit with these people who are devastated by the news they receive and then worry about their sister or brother. Then I say I can’t see them,” Dr Doyle said.

“It’s something that makes me feel like a return to the UK would probably be something that I would find easier to manage because the service there is fairer.”

Dr Doyle has set up a private practice for patients attending other Irish hospitals, but said the cost of private tests can be exorbitant – with some tests costing €5,000.

“A lot of patients collect the money for private consultation and treatment, and I know they don’t have it,” she said.

Genetic testing can help parents who have suffered a loss predict their chances of having a healthy baby, including through genetic testing of embryos used for IVF treatment.

Early genetic diagnosis can also mean parents and doctors can plan to ease pain and improve treatment for babies with rare diseases, including those expected to die soon after birth.

In some cases, this may mean that parents choose to give birth in a hospital closer to home, without major procedures, where grandparents may be present. Dr Doyle said that in the past, without early diagnosis, babies could be rushed to Crumlin Children’s Hospital after birth and die while separated from their mothers.

A genetic diagnosis can also more accurately predict whether a baby with a life-threatening condition may die within 28 days of birth, meaning doctors can advise whether those who wish can access a legal abortion in Ireland or s they have to go to the UK.

Dr Doyle added that a number of those who have traveled to the UK for a medically terminated pregnancy and then discovered their baby has a genetic condition, must also see her privately on their return .

“If they are not our patients before they leave, they must pay privately when they return. And they do it because they want to know why their baby died,” she said.

Although the Ministry of Health has promised to fund a perinatal genome service, it has not yet been agreed whether it will be a national service.

“The HSE National Women’s and Infants’ Health Program has developed a national framework and is engaging with stakeholders on the appropriate design of this service. The Perinatal Service will form part of the overall National Genomics Service when it is developed,” an HSE spokesperson said.