Thousands of Australian couples be part of a free screening that will look at 500 different genetic disorders to prevent them from getting pregnant with babies who have the disorders.
In a historic movement, researchers who are behind The Australian Reproductive Carrier Screening Project (ARCSP) are finalizing a list of severe and/or terminal genetic conditions for which they’ll then screen prospective parents as carriers in part of their preconception planning program. Couples who find that they are carriers of the listed conditions will then be able to access IVF treatment with a governmental subsidy to help ensure their baby does not have any of the conditions.
Some of the conditions that tens of thousands of couples will screen for include Spinal Muscular Atrophy (SMA), cystic fibrosis and Fragile X Syndrome, among others. The project is a memorial to Mackenzie Casella, who was diagnosed with and died from complications of SMA1 last year when only seven-months-old.
Mackenzie’s parents had never heard of SMA, nor did they know that there was a blood test that could have told them their risks of passing the genetic condition on to any offspring. Rachael and Jonathan Casella both carry a gene mutation that gives them a one in four chance of having a child with SMA, and one in two chance that any children they have will at minimum, be carriers of the gene mutation themselves.
The Australian government is using $20 million from their $500 million Genomics Health Futures Mission Investment to pay for preconception planning screening and subsequent IVF treatment that will allow prospective parents to choose embryos that do not have genetic issues.
Stephen Robson is the President of the Royal Australian and New Zealand College of Obstetricians and Gynaecologists and said that a project of this magnitude is unprecedented. He went on to say that though many of the conditions are so rare most people wouldn’t ever have even heard of them, they are catastrophic if they happen to a family.
As part of the pilot project, only couples who have both have genetic mutations for one of the 500 listed conditions will be told they are carriers. Researchers believe this will be about one to three percent of the couples tested. As of now, couples can do this testing themselves, at the expense of about $400 out of pocket, though many doctors don’t even know about the testing and it’s not routinely offered to patients.
Simply knowing the risk can make a big difference for parents as well as children who are born with many diseased in that early diagnosis can often improve outcomes. Parents will also be able to use genetic screening with IVF to ensure that they don’t get pregnant with children who have the conditions.
And while there are many parents who believe this will be a valuable family planning tool, not everyone agrees and worries that perhaps this is an effort to create a ‘master race.’ Dr. Robson says this is not the case–it’s simply to empower women and families to make sure they have the information they need to make choices that are right for them.
The United Kingdom’s advocacy group “Don’t Screen Us Out,” vehemently opposes the trial, however, saying that there are studies that show parents of children with genetic diseases have more positive perspectives than those who aren’t parents of children with them, and that the program will rob families of possibly beautiful life experiences.
The trial will start in the second half of 2019, and Dr. Robson said that if couples want to opt of the screening, they most certainly can do so.
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