Genomics revolutionising healthcare

Melbourne-based genetic counsellor Zoe Milgrom built Australia’s first direct-to-consumer clinical-grade genetic testing company, aiming to shift healthcare from reactive treatment to prevention.

Milgrom co-founded Eugene in 2017 with Kunal Kalro, after she felt frustrated by the health system in which she often had to deliver “the worst possible news” to patients in public genetics clinics, and where wait lists stretched six to 18 months for high-risk patients.

“After delivering so much bad news, I was pretty fatigued and pretty disillusioned by the healthcare system, because I knew there was a better, more proactive way.” Milgrom told The AJN.

Working in paediatrics and high-risk obstetrics, she witnessed how genomic technologies evolved rapidly while public health services struggled.

She reflected, “There was no way for a healthy person in Australia to access proactive, preventative genomics” except for small scale Jewish community carrier screening programs.

Eugene uses next-generation sequencing via internationally accredited clinical labs to identify gene variants linked to serious health conditions. Results are reviewed by genetic counsellors and physicians who provide reports and personalised screening plans.

The company offers at-home, medical-grade genomic testing for reproductive planning and preventive health, working with saliva samples to reach patients regardless of location.

“We work with saliva, so wherever you live you can still get access to care and your genetic test. You don’t have to come to a major centre,” Milgrom explained.

Until November 2023, all services at Eugene were privately funded, but now Medicare provides funding for some carrier screening tests.

Asked what the Australian Jewish community should know about genetic testing, Milgrom advocates for comprehensive genetic testing within the Jewish community.

“In a lot of the Jewish screening programs, they’ll target specific spelling mistakes in the gene, like three or four common variations, what they call founder mutations. And the reality is, I think by taking a broader screening approach we can identify common changes and those that are specific to families – we’re a lot more diverse a population than we think,” she said.

Eugene’s reproductive panel sequences 787 genes, including all genes on the Ashkenazi panel plus conditions relevant to the broader community.

“We’re picking up other well characterised gene variants that aren’t specifically related to the Ashkenazi community,” Milgrom said.

The Jewish community is also known be higher carriers of BRCA1 and BRCA2 mutations which are linked with breast and ovarian cancers. Eugene’s preventative panel examines more than 60 genes linked to common cancers, including BRCA testing to provide a more inclusive and comprehensive risk assessment.

Milgrom noted that there is a Medicare item number for an Ashkenazi Jewish carrier screening panel but said that it is rarely used because Australian laboratories are unable to service it for the rebate that has been applied.

She emphasises the importance of family communication about genetic risk. “Open communication within families is incredibly important because we are who we are because of what our parents passed on to us and we share these variations with other blood relatives and they are what we’ll pass on to our children.”

Often genetic diseases are not discussed for fear of the stigma it can create, but this fails to be proactive in preventing illness through intervention and surveillance.

She remarked, “We can’t change our DNA, but we can change the way it impacts us. I think that’s a really powerful thing to realise.”

Milgrom said she is proud that Eugene has supported over 30,000 people to make informed healthcare decisions, including working with IVF groups to assist rainbow families, and that the company has stayed true to its values.

For more information visit eugenelabs.com