Knocked Up Podcast - Preconception Genetic Screening: a new Medicare rebate for all Australians
Over 10 years in the making, there is now medicare funding towards preconception genetic testing.
Preconception Genetic Screening: a new Medicare rebate for all Australians
Over 10 years in the making, there is now medicare funding towards preconception genetic testing. Our dicussion includes
What is preconception genetic screening
Who is a recessive genetic carrier? (we all are)
How could I be a carrier for a serious genetic condition and yet not be aware of it through my family history?
Why has there not been a Medicare rebate before?
When will the new Medicare rebate apply from?
What will this mean in terms of choosing a genetic screening test?
What is achieved by the panel funded for CF/SMA and Fragile X?
What about the Ashkenazi Jewish screening panel and why is that separate?
Why should I consider putting my rebate towards expanded panel screening options?
Results are relevant to a reproductive relationship - what does that mean?
Hosted by Dr Raelia Lew and Jordi Morrison
Dr Raelia Lew is a RANZCOG Board Certified CREI Fertility specialist, Gynaecologist and the Director of Women’s Health Melbourne.
Find us on Instagram - @knockeduppodcast
Have a question about women's health? Is there a specific topic you'd like us to cover? Email podcast@womenshealthmelbourne.com.au. We keep all requests anonymous.
TRANSCRIPT
Women's Health Melbourne is an innovative, holistic fertility and women's health practice. We are world leaders in IVF and egg freezing and provide our patients with every opportunity to achieve their goals. Our handpicked expert team provides the ultimate care experience for our patients. Reach us at women'shealthmelbourne.com.au and follow us at women's health melbourne and at doctor Raelia Lou.
Jordi Morrison:
Hello, and welcome back to Knocked Up, the podcast about fertility and women's health. You are joined as always by me, Jordi Morrison, and Dr Raelia Lew, CREI fertility specialist. Welcome back, Raelia.
Dr Raelia Lew:
Welcome back. We're kicking off this episode by talking about preconception genetic screening in the context of the new Medicare rebate. Very exciting.
Jordi Morrison:
When does this come into effect?
Dr Raelia Lew:
The rebate comes into effect from November 1. It is something that will be relevant for anyone undertaking preconception genetic screening in the next little while. But it's something that we've been working on and lobbying for for over a decade, so it is extremely exciting. And for those of you who've read my bio, my PhD was in this area. And I was so thrilled and also so honoured that a lot of my PhD publications were actually featured in the application for this rebate, which was ultimately successful. So it's very meaningful to me personally.
Jordi Morrison:
Then you're in the perfect position to explain to us, what is preconception genetic screening?
Dr Raelia Lew:
Preconception genetic screening is checking our DNA to see if we, ourselves, and our partner in our reproductive relationship have any major clashes in the genetic material that we can contribute to a baby. So it helps us to find out if together with our partner, we're at risk of having a child with a inherited serious genetic medical condition.
Jordi Morrison:
And in year 12 biology, we learned about dominant and recessive genes. How does that factor into this?
Dr Raelia Lew:
When we are checking our carrier status, we are looking for recessive genes. A dominant gene is a gene where if you have a fault in even one copy, you will have the serious medical condition if we're looking for a disease. Or a dominant trait, doesn't have to be a disease, means that if you have only one copy, then you display that trait in your, what we call, phenotype or presentation. So for example, brown eyes is an example of that kind of dominant gene that if your parents have one copy of a brown eye gene that they pass to you, even if you have another copy of, say, a blue eye gene, you're going to have brown eyes. So that's an example of a dominant condition where one copy causes the condition. A recessive condition is a condition which only comes to light or only is expressed if you have two copies of that gene. So for example, blue eyes is an example of a recessive genetic condition. You can have both parents have brown eyes because they have one copy of the brown eye gene and one copy of the blue eye gene. And lo and behold, they can have a child with blue eyes because they've given their blue eye gene only, each of them, to that child.
Jordi Morrison:
And so that means that anyone could be carrying a recessive genetic condition and not know about it?
Dr Raelia Lew:
I can take that further. We are all carriers of recessive genetic conditions. And to take it to the next level, we're all carriers of serious disease causing recessive genetic conditions. Every single one of us is. So screening is not to see if we're a carrier or not. We are all carriers of something. The question is, are we a carrier of something serious that our partner is also a carrier of? Because in a reproductive relationship, you have to both be carriers of the same thing to have the risk of having a baby with a serious genetic problem.
Jordi Morrison:
This sounds like we could be preventing some serious conditions. Why has it taken this long for the Medicare rebate to come into effect?
Dr Raelia Lew:
The answer to that question is it's very complicated. And also that the technology to detect these issues has evolved so much in the last five to ten years even to make it affordable as well as accessible. It used to be that back when I was doing my PhD, for example, we had to look for a limited number of very specific gene problems or conditions, and it took a lot of work. It was very expensive. It took a lot of time to find answers for those particular problems. With the Human Genome Project and the absolutely exponential explosion of genetic technologies that followed with genome sequencing, we can now run a single test that checks for literally hundreds or even thousands of genes at the same time and in a reasonable period of time and for a fraction of the cost that it used to cost us to look for a single gene decades ago. The technology advancing has made it, a, achievable and b, much more affordable. And that's really been a big game changer. The other thing is our Medicare system in Australia is often a little bit slow to evolve, and new item numbers are often hard fought for because we have to find the money to pay for them. A really convincing part of adopting genetic preconception screening is it is definitely cost effective to our community. Because when we screen for serious conditions, we pick up risk, and because we have technologies to help couples have healthy babies and avoid having children with the problems that we're looking for, we can actually save our medical system hundreds of thousands of dollars by picking up problems before they cause issues for families. And that's not to mention the trauma of having a child who, for example, passes away from a serious condition.
Dr Raelia Lew:
Another point to make is that in November of last year of 2022, we had the first rebate introduced to Medicare for preconception genetic screening technology to be able to be used with some Medicare help for genetic testing of embryos for the actual diagnosis of the problems found in embryos. So for a year now, we've had some Medicare rebates for the development of a test to pick up the problems that we find on screening in individual embryos from families where there is a high risk of having a baby with the problem, and also for the biopsy of the embryo and the test to be run to check the embryo status. One of the technologies that we can use when we know a couple is at risk of a serious problem, for example, spinal muscular atrophy, That's a very famous example which sparked the campaign behind Mackenzie's mission, which people may have heard of. And we had Rachel Cassella come on a previous episode of Knocked Up to talk about that. So do check it out in the back catalogue. But Rachel had a child with, spinal muscular atrophy called Mackenzie, who was unfortunately diagnosed and passed away before the age of two years. And subsequently, she told her story of how she then found out that she and her partner were carriers for spinal muscular atrophy and ended up using IVF and genetic testing of embryos to have further healthy children. She also lobbied and had a great deal of advocacy behind this course and was one of the loud voices that helped the Mackenzie's mission study named after her daughter be funded, which was looking at the potential for preconception genetic screening to be offered in an even wider form than is currently covered by the new rebates.
Jordi Morrison:
You've mentioned that the rebate is for three specific conditions, fragile X, spinal muscular atrophy, and cystic fibrosis. But you mentioned that it's possible to screen for thousands of conditions. How do you know what to be screened for?
Dr Raelia Lew:
Because there's a Medicare rebate now from November 1, to access a Medicare rebate, you'll need a request form from a doctor. So the first thing to do if you are interested in having preconception genetic screening is see your doctor, be that your GP, your gynaecologist, or your friendly CREI fertility specialist if you need some help getting pregnant for other reasons. And we can facilitate access to screening for you. If you choose to be screened for cystic fibrosis, spinal muscular atrophy, and fragile x, those three conditions alone, we'll pick up twenty percent of at risk carrier couples in our community, and that will be fully funded by the rebate. But you can actually choose to be screened for upwards of 500 tests simultaneously, and that will pick up more than ninety percent of that risk carrier couples in our community. But that is currently not fully funded by the rebate. But what you can do is you can put your rebate towards that grader panel of tests, Meaning that you can take your rebate and what that means is the cost of screening for the expanded panel would be significantly reduced. And what you would pay would be the gap between what the rebate covers and what the panel costs. And there'll be different brands competing for, I guess, your referrals. So you can talk to your doctor about the different options, and they'll guide you in the right direction.
Jordi Morrison:
Why are we testing for these three conditions?
Dr Raelia Lew:
It's actually historical, and it's probably to do with the fact of how long we've been asking for this rebate. The three conditions tested for are the most common in our community as specific conditions. Cystic fibrosis, for example, one in twenty people is a carrier. It's particularly more in Anglo Celtic populations. It is a little bit anglocentric, this panel, whereas the expanded panel is much more pan ethnic and relevant to people of diverse backgrounds. Spinal muscular atrophy, about one in a hundred people are a carrier, but it is very, very serious because children don't survive this disease to live to be adults. And losing a child to this disease is extremely traumatic. Your baby's born normal, and then you have to watch your child deteriorate and ultimately pass away. So it is so traumatic for parents. Fragile x is an inherited form of mental disability, often affecting boys more than girls, but can affect girls also. That's because we, as females, have two x chromosomes who do have a backup copy of the x chromosome, whereas, males only have one x chromosome. So if they have an x linked disorder, which this is to some degree, then it acts like a dominant condition because they only have that one gene. So they display the what we call phenotype. Phenotype. Genotype means what your gene looks like. Phenotype means the conditions you display as a result of that genotype. Those conditions though are the tip of the iceberg. And there are literally hundreds of serious conditions of similar carrier frequency. And your chance of being picked up as a carrier for one of the broader panels is virtually a hundred percent. Like, most people are gonna be picked up as a carrier. The more conditions you screen for, the more likely you're gonna be a carrier of something. So the broader panels are much more comprehensive. And I would definitely recommend for those who are able to afford to pay the difference, who are considering screening to go for the broader panel.
Jordi Morrison:
I wanted to ask about the Ashkenazi Jewish screening panel. So this is separate. And what does this cover and why is it special for this group?
Dr Raelia Lew:
So this was actually one of the subjects of my PhD as well. And I actually come from an Ashkenazi Jewish background, so it's quite close to home. But it's a group of people who don't have a great deal of diversity in their genetic origin. And so for that reason, there are very specific diseases that are much, much, much more common in Ashkenazi Jewish populations than in other populations. And the conditions that are very, very common are actually very rare in other populations. So one of the conditions that screening was it was really the the condition that was the prototype of genetic screening in any population was Tay Sachs disease. Tay Sachs disease is every bit as common in Ashkenazi Jewish people as cystic fibrosis is in Anglo Celtic people. And, unfortunately, it is a bit like spinal muscular atrophy in that it's a neurodegenerative mitochondrial myopathy. And it's a condition where babies, unfortunately, pass away, when they are somewhere between one year and five years old. So it's devastating to families. And that was really the condition that preconception genetic screening was invented to to look for. The very first screening test for a genetic condition was an enzyme test, not even a DNA test, to pick up. Tay Sachs is there are a series of conditions in the Ashkenazi Jewish panel, which are much, much more common in Ashkenazi people. And so if you do have that heritage, that panel in the new rebates would be covered for you. But, again, in Ashkenazi populations, I would recommend that people put that rebate towards the broader panel just like I'd recommend for the general population because there are many, many more conditions than are funded in that panel that are actually relevant to screen for. I also think that in our generation, a pan ethnic panel is a whole heap more sensible because we are, in Australia, a massive melting pot, and lots of us have heritage from lots of different places. And we don't necessarily have genetic risk assigned from a region or an area. We might be a little bit Aboriginal or we might be a little bit Filipino. We might be a little bit Anglo Celtic. And I would put it to us that many people don't know where their great great great grandparents came from. So the pan ethnic panel is very relevant no matter what your heritage is, and it will help pick up more than ninety percent of at risk carrier couples. So that's my clear recommendation.
Jordi Morrison:
These results are only relevant to a reproductive relationship. What does that mean?
Dr Raelia Lew:
When we're screened with a partner, we're looking to see if we're a clash with our partner. We're all gonna be carriers for something. And if we repartner and we've had a low risk screen in a relationship previously, that doesn't necessarily mean that we are a low risk coupling in our new relationship. So we need to reconsider what our new partner may be a carrier for and to check that against our own status. So once you've done this test, you only do it once. And if we reassess in a new reproductive relationship, it's comparing the result that you've already had to your new partner's result that they may or may not have already had. But you don't have to do the test again. It just needs to be reinterpreted in the new context.
Jordi Morrison:
Genetic screening has been available through online portals and without seeing a doctor. That's about to change with the Medicare rebate. What are the changes?
Dr Raelia Lew:
The changes will evolve, but it has to change because any test that has a Medicare rebate needs a doctor to request it and for a doctor to be responsible for looking at the test results and being answerable for the test results. Probably where this has been available online direct to consumer or direct to patient, the new process will involve an interaction with a a clinical doctor. Either the test will be ordered by a doctor, for example, in JP practice, or it may be that the test remain direct to consumer, but you may instead of just clicking and ordering a test online, you may need to speak with a doctor as part of that process to order your test.
Jordi Morrison:
For our listeners, what are the take home messages from this change?
Dr Raelia Lew:
The take home messages is preconception genetic screening has gone from something considered a luxury to something that we now consider to be a mainstream standard of care, and that's something to be celebrated. There is no need to be frightened about the idea of being a genetic carrier for a condition. Literally, all of us are. Every single one of us, whether we've done a test or not, is a genetic carrier for something. So there should be no stigma associated with this. This technology is just a new way where we can check our genes out compared to our partner, and we can pick up risk so that we can do something about it. What we can do about it depends on when we do the test and when we find out. The best time to do the test is before you're pregnant because that way you have all the options on the table, and you have time to think about it carefully and plan what you want to do together with advice from your doctor in a situation where it's not loaded with a lot of pressure and especially with a lot of time pressure. When we know we're a carrier couple, we can check our pregnancy. So we can get pregnant naturally and do a test when we're pregnant to see if our baby has the problem. One in four babies will have the problem for at risk carrier couples of recessive conditions. If you find your baby is affected and you're pregnant, your options would be to continue the pregnancy with that knowledge or to terminate your pregnancy. So if you find out later in a pregnancy, it is, of course, a much bigger challenge. The other option we have if we know preconception before we've gotten pregnant that we are in this situation, we can choose to do IVF and test embryos before transfer. And that's a really powerful way of ensuring that every pregnancy we have is going to be a pregnancy that's been screened before it was created. So we're not needing to make those difficult decisions about whether we continue or terminate a wanted pregnancy because of an affected baby.
Jordi Morrison:
Thank you, Raelia. We'll put some links in the show notes to other episodes and resources about this. To support Knocked Up, leave us a review or recommend to a friend. Join us on Instagram at @knockeduppodcast and join Raelia at @doctorraelialew, and email us your questions to podcast@womenshealthmelbourne.com.au.