Genetic testing with online services, the effect of genetics on a population, safer pregnancy and antenatal care services, and why nano stuff and stem cells are like teenagers

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Health Report 38 min 2 speakers 7 chapters transcribed 5 days ago

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What is the focus of the Health Report episode and who are the hosts?

Unknown 0:02

This is an ABC podcast.

Tegan Taylor 0:06

Hello and welcome to the Health Report Podcast with me, Tegan Taylor. Coming up on the show, how social connections can help people offset a genetic predisposition to mental health issues. What effect might pandemic lockdowns and telehealth have on our stillbirth rate? And why treating stem cells like lazy teenagers could be the way to developing better therapies for Parkinson's disease and stroke damage? But first, RN is celebrating International Women's Day with an all-female lineup, and joining me is fellow woman and health reporter Lauren Roberts. Hi Lauren. Hi, good afternoon. So online genetic tests can be pretty popular and usually reliable for things like tracing back your family tree. But what happens if you take your genetic information and put it into a third-party website in an attempt to find out if you have a rare disease, rare disease-causing abnormality, such as a mutated uh BRACA-1 gene, which uh increases people's risk of breast cancer?

Tegan Taylor 1:06

Lauren, you've been looking into this. Is this something that Australians have been doing?

Lauren Roberts 1:10

Yes, it is. So researchers from the University of Exeter recently launched a large-scale study after learning of women scheduling surgery because they'd been told, wrongly, that they carry a fault in the BRCA1 gene. As we know, women who have a mutated BRCA 1 or BRCA2 gene have a high lifetime risk of breast cancer in the range of 30 to 60%, and a lifetime Of varying cancer risk of about 20%. These genetic variations are very rare, with roughly 1 in 400 people carrying a mutated BRCA1 or BRCA2 gene. Exeter researchers looked at data from nearly 50,000 people and they found SNP chips, technology widely used by commercial genetic testing companies, is extremely unrealistic. Reliable in detecting rare variants.

Lauren Roberts 2:03

SNP chips are DNA microarrays that test genetic variations at many hundreds of thousands of specific locations across the genome and used in research for genome-wide association studies. But these rays are not good at or designed for picking up very rare disease-causing variants. In fact, researchers found rare variants. variants picked up by these rays are in fact more likely to be wrong than right.

Tegan Taylor 2:31

SNP chips sound like something I would like to snack on rather than uh submit my DNA to but so it sounds like it's got a use but it's not being used correctly. W is it happening what's the impact of that here in Australia?

Lauren Roberts 2:44

the researchers that I spoke to have been surprised by the study's foundings. In fact, Paul Lacars from Monash University said the technology used in these lower cost direct-to-consumer online tests effectively scan the material, whereas proper medical grade testing reads through it thoroughly.

Paul Lacaze 3:01

Critically admisses the very rare genetic changes that can be highly clinically significant. such as the genetic changes that can occur in the BRACA one and two genes.

Tegan Taylor 3:12

So that's Monash University Public Health Genomics Programme, head Paul Lacarse. So how do these these SNP chip tests compare to the sorts of testing that would be done in a typical lab in Australia to screen properly for BRACA 1 and 2 genes? So in an Australian laboratory.

Lauren Roberts 3:29

Which is the gold standard for this kind of work. Experts sequence all the points of the genes which have been implicated in these kinds of cancers and look at every single point in the gene for anything unusual. But these cheaper online direct-to-consumer genetic tests use a form of sampling where they just scan through the genome and don't read the entire thing from start to finish. Last year, Dr. Lacarse Actually, worked on a study looking into the impact of direct-to-consumer genetic testing on Australian clinic genetical services. Researchers looked at Australian clinical services and asked them about the number of direct-to-consumer genetic testing-relating referrals. So that's people that have found out some what they would term troubling genetic information online and then brought them into a clinic that they'd received over the past.

Lauren Roberts 4:19

10 years and they found eleven publicly funded services had reported more than 100 of them.