Founder of Australia’s first GP-based genetic counselling clinic

Evelyn Lewin

18/12/2018 3:05:48 PM

While he was happy working as a GP, Dr Cohen’s direction changed when his son was diagnosed with Fragile X syndrome.

Dr Cohen was drawn to delve further into the world of genetics following his son’s Fragile X diagnosis.
Dr Cohen was drawn to delve further into the world of genetics following his son’s Fragile X diagnosis.

Dr Jonathan Cohen always knew he wanted to be a doctor. His father was a GP whose practice was in the family home, so Jonathan literally ‘grew up on the waiting room floor’.
Choosing his vocation within medicine was also an easy decision.
He considered a couple of specialties throughout his training, but realised they were quite ‘narrow’.
‘General practice is the only discipline in medicine that lets you do a very wide range of things, from surgical procedures through to counselling through to research, and see people all at the same time,’ he told newsGP.
While Dr Cohen was happy working as a GP, his life changed when his son was diagnosed with Fragile X syndrome at age seven.
‘That threw us into the genetics world,’ he said. ‘That was not a decision; we were in it.’
Dr Cohen soon began seeing other families at his own clinic who were also affected by Fragile X syndrome. With his unique knowledge and understanding of genetic issues in medicine, Dr Cohen was drawn to delve further into the world of genetics.
He thus opened Australia’s first (and so far only) GP-based genetic counselling service, Genetic Clinics Australia (GCA), in 2016.
To Dr Cohen, it was a logical leap.
‘After having spent over two decades working with people [with genetic conditions] you develop an expertise in genetics and it becomes part and parcel of the course,’ he said.
People initially trickled in, but the patient base grew as word of mouth spread. GCA employs two genetic counsellors and its focus lies in genetic testing for carriers.
Dr Cohen chose that area of genetics because he believes pre-conception genetic care is a vital area of preventive medicine. He said GPs are adept at instituting preventive care in fields such as cardiovascular disease and diabetes prevention.
‘Reproductive carrier screening fits in very nicely, and I think it’s an essential part of general practice,’ he said.
Dr Cohen feels the demand for GP-based genetic screening will continue to grow, especially following new guidelines released by the Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG), which state that all couples planning a pregnancy should be offered information about genetic carrier testing.
Considering there over 70,000 births in Victoria each year, he believes that is a huge source of potential interest in genetic carrier testing. And, yet, Dr Cohen says, there are no ideal avenues for patients seeking genetic carrier testing.
Apart from at his clinic, patients currently have two options: access hospital-based services (where the wait list can be ‘months and months’), or seek the private services of a genetic counsellor.
Dr Cohen does not think it is practical for clinical geneticists to implement preconception genetic carrier testing, as they usually deal with severe disease and syndromes. Nor does he think this falls into the role of an obstetrician, as most patients don’t see an obstetrician until they’re already pregnant.
‘GPs see people before they get pregnant, so we are in the ideal situation to be offering information about reproductive carrier screening,’ he said.
Running the first-ever Australian clinic to offer GP-based genetic counselling, however, is not without its challenges.
‘There are no models for us to follow, so we’re going very carefully,’ Dr Cohen said.
Despite this, Dr Cohen loves working his current mix of genetics and general practice.
‘It’s fantastic. It’s a very, very exciting area,’ he said.
While Dr Cohen acknowledges there are barriers to other clinics following in his footsteps – such as the fact that genetic counsellors are not covered by Medicare or private health insurance – he hopes this will soon change.
‘I think eventually there will be other clinics that will open up,’ he said.
‘[Just as there are] GP clinics that have a special interest in women’s health or sports medicine or travel or skin, I think that’s probably what will happen as far as the genetics area goes.’

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