Genomic testing and medico-legal risk | InSight+ - MJA Insight

One challenge is ensuring that doctors and patients can safely and sustainably benefit from genomic medicine without increased medico-legal risk.

Advancing technologies and the increasing availability of expanded screening and testing mean that the practitioner and the pregnant person need to discuss and understand more complex information and face value-laden choices even before deciding whether to go ahead with a test.

To put this issue into the antenatal context, guidelines from the Royal Australian and New Zealand College of Obstetricians and Gynaecologists and the Royal Australian College of General Practitioners (RACGP) state that information on carrier screening for the most frequent autosomal or X-linked genetic conditions should be offered to all women planning a pregnancy or in the first trimester of pregnancy.

The Colleges also state that all women should be provided with information and have timely access to screening tests for fetal chromosome and genetic conditions.

Therefore, it is incumbent on practitioners working in this field to be equipped with the knowledge, expertise and tools to have comprehensive and comprehensible consent discussions with their patients about genomic testing.

There was sentiment from the doctors who attended the webinar that the concept of voluntariness in genetic testing in pregnancy may be eroded by an “expectation” or social “normalisation” that women will accept each test offered.

“… practitioners need to be careful to convey respect to women who choose against genetic screening in pregnancy.

We support the development of standard information and forms to be used as part of the consent process for genetic testing in pregnancy.

Standard information used in consent discussions also helps to ensure information to patients is balanced, evidence-based and informative.

The Clinical Genomic Testing Consent Form developed to support the model can be adapted across jurisdictions and can be used in conjunction with patient information materials to assist patient understanding during the consent discussion.

We welcome the Medicare funding announced for genetic carrier screening for all couples, testing for carriers of cystic fibrosis, spinal muscular atrophy and fragile X syndrome from 2023.

With Medicare-funded testing available, the standards for carrier screening could change, with testing becoming the standard professional practice of doctors.

More doctors will need to be equipped with the knowledge and communication skills to discuss carrier screening with their patients.

Time is of the essence in pregnancy, and workforce constraints could add pressure and stress to patients and doctors.

While this may be the case with many specialties, particularly following the COVID-19 pandemic and workforce shortages due to burnout, the increased availability of and funding for genomic testing means that workforce shortages in clinical genetics and genetic counselling need to be addressed as a matter of urgency.

Keeping up to date with rapidly advancing knowledge and ensuring patients have enough information so they are making informed decisions about testing are key concerns of doctors practising in this area.