Genomic testing and medico-legal risk

Integrating genomics into mainstream healthcare has many benefits but also presents challenges. One challenge is to ensure that doctors and patients can benefit safely and sustainably from genome medicine without an increased risk from medical law.

Whilst the number of legal cases in Australia is still relatively small, this moment presents an opportunity to develop tools, training and support so that physicians and their patients can safely and sustainably benefit from advancing skills without increased medico-legal risk.

In the last 2 years we have examined the practical and medico-legal risks associated with genomic medicine, particularly in the context of antenatal care. Through our work, we have found that informed consent to testing, as well as staffing and funding issues, are significant barriers to more effective use of genomics in healthcare. What we are seeing and how these medico-legal risks can be addressed through tools, training and support is explored below.

Declaration of consent to the test

At the heart of genomic medicine consultations are individuals and families who are dealing with complex and often life-changing decisions. Many people need support to understand the issues involved and to deal with the consequences of their decisions.

The consent process for people considering genomic testing presents unique challenges compared to other tests and treatments.

Advancing technology and the increasing availability of advanced screening and testing mean that the doctor and pregnant person must discuss and understand more complex information and face value-laden decisions before even deciding whether to have a test.

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

To place this issue in the prenatal context, guidelines from the Royal Australian and New Zealand College of Obstetricians and Gynecologists and the Royal Australian College of General Practitioners (RACGP) state that information on carrier screening for the most common autosomal or X- chromosomal genetic disorders should be offered to all women planning or in the first trimester of pregnancy. The colleges also state that all women should be provided with information and timely access to screening tests for fetal chromosomal and genetic disorders.

Guidelines play an important role in describing the standard of care that is expected of physicians. Therefore, there is a need for practitioners working in this field to be equipped with the knowledge, expertise, and tools to conduct comprehensive and understandable informed consent discussions about genomic testing with their patients.

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An additional challenge to the consent process is that technology often evolves much faster than laws and policies. The advent of expanded screening for autosomal, X-linked, and fetal chromosomal disorders can present challenges for physicians and their patients. “Expanded” screening can test for over a thousand conditions, many of which would have very little effect on a person. It is inherently difficult to explain the potential impact of a variant of uncertain importance in terms of a person’s likelihood of developing a disease.

The well-established principles of consent require that a doctor provide the person with enough information to enable them to make an informed decision about the test or treatment offered. This is a patient-centred test that requires 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 would want to know. The doctor also has an ethical and legal obligation to recognize whether the patient has understood this information.

It is also important to ensure that a patient’s decision to undergo genomic testing is voluntary. An article published in MJA in 2021 noted that patients may feel foolish about turning down an offered test and that a “normalization” of testing has begun.

This was reiterated in a recent Avant webinar, where medical and legal experts discussed issues related to genetic testing and pregnancy. The doctors who attended the webinar expressed the opinion that the concept of voluntary pregnancy genetic testing could be undermined by an “expectation” or social “normalization” that women would accept any test that was offered. A participant said:

“…Practitioners must be careful to instill respect in women who choose not to undergo genetic screening in pregnancy. There is a risk that repeated discussions and repeated offers of testing give the impression that the woman made a wrong 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 understand what is at stake and assist them in their decision-making, as well as reduce some of the medico-legal risks for physicians.

Standard information used in consent interviews also helps ensure that the information is balanced, evidence-based, and informative for patients. This would reduce the burden on practitioners and means there is less room for allegations of bias in the information they provide. It also has the potential to clarify the blurring lines between clinical and scientific use of genome test results, which could, for example, expand the body of information informing the importance of a rare variant that may have been identified.

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It is therefore gratifying to see that the National Model of Consent for Clinical Genomics Testing has been developed by the NSW Department of Health in line with Action 4A of the National Health Genomics Policy Framework Implementation Plan on behalf of the Australian Health Minister’s Advisory Board Project Reference Group on Health Genomics. The clinical genomic testing consent form developed to support the model can be customized in all jurisdictions and used in conjunction with patient information materials to support patient understanding during the consent discussion. Consent material was also developed by Australian Genomics.

Personnel and financing issues

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

We applaud the announced Medicare funding for carrier screening for all couples and testing for carriers of cystic fibrosis, spinal muscular atrophy and fragile X syndrome beginning in 2023. However, as screening of genetic carriers becomes more accessible, there are some practical and medico-legal issues to consider.

With the availability of Medicare-funded testing, standards for carrier screening could change as testing becomes standard professional practice for physicians. More physicians 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 the appropriate Medicare item numbers for the consultations. The RACGP is calling for changes to the Medicare benefit plan to better support longer consultations for prenatal care, which would support the use of time-based Level C and D Medicare items for longer prenatal consultations. Such changes would better allow time for the detailed discussions that need to take place in the context of genetic screening. An alternative would be to introduce an additional Article Number specific to genomic testing and counseling that would recognize the complexity of these discussions with patients.

We believe that Medicare-funded testing is likely to lead to more testing and therefore more people getting positive results. Physicians we spoke to emphasized the importance of being able to connect with genetic specialists and counselors. They reported that patients may need genomic expertise and mental health support. Currently, there can be long delays and challenges in accessing these practitioners. Time is of the essence during pregnancy, and staffing shortages can increase pressure and stress for both patients and doctors. In addition, it is not clear whether the newly announced funding for carrier screening includes costs associated with genetic counseling to discuss the results.

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Research by the Deeble Institute has found that staffing shortages in clinical genetics and genetic counseling are partly due to limitations in the number of professionals trained, which in turn is related to limited job rotations available. While this may be the case for many specialties, particularly in the wake of the COVID-19 pandemic and staffing shortages due to burnout, the increasing availability and funding of genomic testing means that staffing shortages in clinical genetics and genetic counseling must be addressed as a matter of urgency. This will help ensure patients are getting the information they need and allay physicians’ concerns about medical risk.

The potential of genome medicine is great, but so are the associated challenges. Keeping up to date with rapidly evolving knowledge and ensuring patients have sufficient information to make informed decisions about testing are major concerns for physicians practicing in this field.

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

Rocky Ruperto is an attorney and legal and policy advisor at Avant.

dr Sally Parsons is Medical Advisor and Claims Manager at Avant, as well as Clinical Director and GP in Adelaide. Avant is Australia’s largest medical defense organisation.

Disclaimer: This article is intended to provide comments and general information. It does not constitute legal or medical advice. You should obtain legal or other professional advice before relying on any Content and exercise appropriate clinical decision making regarding your individual circumstances.

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

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