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Improving outcomes from reproductive carrier screening – an interview with Prof Martin Delatycki

20 Oct 2021, by Amy Sarcevic

Reproductive carrier screening (RCS) has become increasingly sophisticated over the years. Now capable of screening thousands of genes, RCS can identify couples at risk of many hundreds of autosomal and X-linked recessive genetic conditions.

But while RCS is being offered to more women and couples, scope for poor patient outcomes remains higher than it should, according to Prof. Martin Delatycki, Clinical Director at the Victoria Clinical Genetics Service. Ahead of the Obstetrics Malpractice Conference hosted by Informa Connect, he outlines three ways the current RCS framework could improve.

Financially inclusive

At around $400 to over $1000, and excluded from the current Medicare rebate schedule, RCS is prohibitively costly for some low income families. For others, who may not properly understand the risks and benefits, the price tag is simply a deterrent. For this reason, Prof. Delatycki believes the existing ‘user pay’ model should be reconsidered, with some screening publicly funded.

“In my view, genetic disorders such as cystic fibrosis, spinal muscular atrophy, and fragile X syndrome should be made freely available to everyone, in line with recommendations from the Royal Australian and New Zealand College of Obstetricians and Gynaecologists,” he said.

The benefits of this approach would be far-reaching, with 1 in 75 pregnancies conceived with a 1 in 4 chance of a child being born with an autosomal or X-linked recessive condition.

Routinely offered

A related concern is a recent finding that doctors exercise discretion when it comes to offering RCS to patients. The study found that some doctors do not offer RCS if a patient is believed to be from a low income family, on the assumption they could not afford it. Prof. Delatycki believes this approach is unethical, potentially leaving clinicians liable in the event a bad health outcome ensues.

“A health professional should never assume the desires or motivations of a patient. It could be that a patient struggles to afford the screening, but that they are able to summon the funds if needed. Regardless, RCS should be offered to everyone, irrespective of their socio-economic status,” he said.

Better patient knowledge and resources

Since the 1990s, the RCS landscape has been rapidly evolving as new innovations come to the fore. Today, thousands of genes can be screened, with hundreds of disorders detected. Keeping abreast with the latest research on RCS can be time consuming for health professionals; as can educating patients to make informed choices.

“I am very cognisant that as each new test comes on board and enters mainstream practice, a health professional has to invest time to learn about it – and time is a commodity that many clinicians don’t have in surplus,” said Delatycki.

“I think it’s important to develop educational resources, so that health professionals don’t have to bear the full brunt of this.”

Alongside his recommendations for improving RCS effectiveness, Prof. Delatycki is set to give details on a major new research project, currently underway.

The Mackenzie’s Mission study will examine the best way to deliver a national reproductive genetic carrier screening program, available to all couples in Australia. Around 8000 couples are participating, 5000 of which have been screened to date.

Giving updates on the results so far, Prof Delatycki will present at the Obstetrics Malpractice Conference, due to take place 7-8 December at the Swissotel Sydney.

Learn more and register.

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