How Genetic Technologies Can Empower More People With Information - Seite 2

The results are delivered directly on a video call. According to Milgrom, it's a quick conversation for the majority of clients. But for someone who is identified as having a higher chance of passing on a genetic condition, Eugene counselors will provide guidance and support; they also liase with the patient's healthcare provider. Eugene counselors pride themselves on being able to communicate scientific information into options that clients can use to make informed decisions. The clients own their genetic information and the choices they make based on the results are theirs.

"Pregnancy is risky"
About 70% of people tested on an expanded carrier screening panel are found to be healthy carriers of at least one significant genetic condition. Those conditions are usually recessive and rarely have implications for the person being tested. Family history, Milgrom explains, is not a good predictor. In fact, 90% of children who are born with an inherited genetic condition have no family history of it.

About 2%-3% of couples¹ tested are found to have a higher chance of having a child with a significant inherited genetic condition. This is where genetic counseling is crucial in reproductive carrier screening, because having this information can affect what choices the couple makes. "There are lots of choices out there," Milgrom says, "and we really need to support the couples to feel empowered so they can make informed decisions, based on their own personal values and beliefs."

Today, the Royal Australian and New Zealand College of Obstetricians and Gynaecologists (better known as RANZCOG) recommends that anyone planning to become pregnant or in their first trimester should be made aware of the availability of reproductive carrier screening. In Australia the most common carrier screening test is a three-gene test, but Milgrom says it has lower detection rates for people of non-European ancestry, so expanded panels are a much more comprehensive way of identifying carrier couples, regardless of ancestry.

Diverse populations are underrepresented in the body of existing genomic data, which limits the scope of our knowledge of disease and the potential for precision medicine. Seventy-eight percent of the genome-wide association study data in the public GWAS Catalog comes from individuals of European descent. "If we're moving towards the future of precision medicine, the genomic data needs to include people of diverse backgrounds," Milgrom says.

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