Genomic testing and medico-legal risk

INTEGRATING genomics into mainstream health care has many benefits, but also presents challenges. One challenge is ensuring that doctors and patients can safely and sustainably benefit from genomic medicine without increased medico-legal risk.

While the number of legal cases in Australia is still relatively small, this moment in time represents an opportunity to develop tools, training and support so doctors and their patients can safely and sustainably benefit from the advancing capabilities without increased medico-legal risk.

Over the past 2 years, we have been exploring the practical and medico-legal risks associated with genomic medicine, particularly in the context of antenatal care. Through our work, we identified that informed consent to test and workforce and funding issues are significant barriers to more effective use of genomics in health care. What we are seeing and how these medico-legal risks can be addressed through tools, training and support are explored below.

Informed consent to test

At the centre of consultations involving genomic medicine are individuals and families grappling with complex and often life-altering decisions. Many people need support both to understand the issues involved and to deal with the consequences of their decisions.

The consent process for people considering genomic testing presents specific challenges compared with other testing and treatments.

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.

Concepts such as “chance” of a condition developing (and the severity of that condition) or “variants of uncertain significance” are somewhat unique to the field of genomics and can be difficult for doctors to explain and for patients to understand.

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.

Guidelines play an important role in outlining the standard of care expected of doctors. 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.

An additional challenge for the consent process is that technology often develops at a much quicker pace than laws and guidelines. The emergence of expanded screening for autosomal and X-linked conditions and for fetal chromosome conditions can present challenges for doctors and their patients. “Expanded” screening can test for over a thousand conditions, many of which would have very little impact on a person. Explaining the potential impact of a variant of uncertain significance in terms of the chance of a condition developing in a person is inherently difficult.

The well established principles of consent require a doctor to give the person enough information for them to make an informed decision about the test or treatment being offered. This is a patient-centred test, requiring a doctor to discuss not only what a reasonable person in the patient’s position would want to know but also what the particular patient wants to know. The doctor is also ethically and legally obliged to recognise whether the patient has understood this information.

It is also important to ensure that a patient’s choice to have genomic testing is voluntary. An article published in the MJA in 2021 noted that patients may feel foolish to reject a test that is on offer and that a “normalisation” of testing has begun.

This was echoed in a recent Avant webinar, where medical and legal experts discussed issues of genetic testing and pregnancy. 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. One participant said:

“… practitioners need to be careful to convey respect to women who choose against genetic screening in pregnancy. There is a risk that repeated discussion and repeated offers of testing sends a message that the woman has made an incorrect decision.”

We support the development of standard information and forms to be used as part of the consent process for genetic testing in pregnancy. This would help patients to understand what is involved and assist in their decision making, as well as alleviate some of the medico-legal risk for doctors.

Standard information used in consent discussions also helps to ensure information to patients is balanced, evidence-based and informative. This would lessen the burden on practitioners and means there is less room for allegations of bias in the information they were providing. It also has the potential to make clearer the blurred lines between clinical and research use of genomic test findings, which could, for example, add to the body of information that informs the significance of a rare variant that may have been identified.

It is therefore pleasing to see the National Model of Consent for Clinical Genomics Testing developed by the NSW Ministry of Health in accordance with Action 4A of the implementation plan for the National Health Genomics Policy Framework, on behalf of the Australian Health Minister’s Advisory Council Project Reference Group on Health Genomics. 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. Consent material has also been developed by Australian Genomics.

Workforce and funding issues

Avant has also identified significant workforce pressures and gaps in funding for timely and sustainable care in genomic medicine.

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. However, as genetic carrier screening becomes more accessible, there are some practical and medico-legal issues to consider.

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.

The complexity of these discussions should be reflected in appropriate Medicare item numbers for the consultations. The RACGP is calling for Medicare Benefits Schedule amendments to better support longer consultations for antenatal care that would support the use of time-based level C and D Medicare items for longer antenatal consultations. Such changes would better allow time for the detailed discussions that are required to take place around genetic screening. An alternative would be to introduce an additional cobilled item number specific to genomic testing and counselling which would recognise the complexity of these discussions with patients.

We believe Medicare-funded testing is likely to lead to more testing and, therefore, more people receiving positive results. Doctors we spoke with noted the importance of being able to engage with genetic specialists and counsellors. They reported that patients may need genomic expertise and mental health support. Currently, there can be lengthy delays and challenges accessing these practitioners. Time is of the essence in pregnancy, and workforce constraints could add pressure and stress to patients and doctors. Also, it is not clear that the newly announced funding for carrier screening includes costs associated with genetic counselling to discuss the results.

Research from the Deeble Institute has found that the workforce shortages in clinical genetics and genetic counselling are partly due to constraints on numbers of professionals being trained, which in turn are linked to limited workplace rotations available. 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. This will help ensure that patients are given the information they need and alleviate doctors’ concerns about medico-legal risk.

The potential for genomic medicine is great, but the challenges it presents are also significant. 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.

Now is the time to develop tools, training and support so doctors and their patients can safely and sustainably benefit from the advancing capabilities without increased medico-legal risk.

Rocky Ruperto is a solicitor and Legal and Policy Adviser at Avant.

Dr Sally Parsons is a Medical Advisor and Claims Manager at Avant and Clinical Director and GP in Adelaide. Avant is Australia’s largest medical defence organisation.

Disclaimer: This article is intended to provide commentary and general information. It does not constitute legal or medical advice. You should seek legal or other professional advice before relying on any content, and practise proper clinical decision making with regard to the individual circumstances.

The statements or opinions expressed in this article reflect the views of the authors and do not necessarily represent the official policy of the AMA, the MJA or InSight+ unless so stated.

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