INTEGRATING genomics into mainstream health care has many benefits, but also presents challenges. One of the challenges is to ensure that doctors and patients can safely and sustainably benefit from genomic medicine without increasing medicolegal risk.
Although the number of legal cases in Australia is still relatively small, this moment represents an opportunity to develop tools, training and support so that doctors and their patients can safely and sustainably benefit from advanced capabilities without increased of the medicolegal 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 prenatal care. Through our work, we identified that informed consent for testing and workforce and funding issues are significant barriers to more effective use of genomics in health care. The following explores what we are seeing and how these medicolegal risks can be addressed through tools, training and support.
Informed consent for the test
At the center of genomic medicine consultations are individuals and families facing 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 to other tests and treatments.
Advanced technologies and the increasing availability of expanded screening and testing mean that the doctor and the pregnant woman must discuss and understand more complex information and value-laden options, even before deciding whether to be tested.
Concepts such as “likelihood” of developing a condition (and the severity of that condition) or “variants of uncertain significance” are somewhat unique to the field of genomics and can be difficult to explain to clinicians and to the patients to understand.
To put this issue in 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 autosomal or linked genetic conditions to X more frequent. should be offered to all women planning pregnancy or in the first trimester of pregnancy. The colleges also state that all women should receive information and have timely access to screening tests for fetal genetic and chromosomal conditions.
Guidelines play an important role in defining the standard of care expected of physicians. Therefore, it behooves professionals working in this field to be equipped with the knowledge, experience, and tools to have comprehensive and understandable consent discussions with their patients about genomic testing.
An additional challenge to the consent process is that technology often develops at a much faster rate than laws and guidelines. The emergence of expanded screening for autosomal and X-linked conditions and for fetal chromosomal conditions may present challenges for clinicians and their patients. “Extended” screening can test for more than 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 a person’s chances of developing a condition is inherently difficult.
Well-established principles of consent require that a doctor give the person sufficient information to enable them to make an informed decision about the test or treatment being offered. This is a patient-centered test, requiring a physician 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 physician is also ethically and legally obligated to acknowledge whether the patient has understood this information.
It is also important to ensure that the patient’s choice to undergo genomic testing is voluntary. An article published in the MJA in 2021 noted that patients may feel foolish for refusing a test that is offered, and that a “normalization” of testing has begun.
This was echoed in a recent Avant webinar, where medical and legal experts discussed issues of genetic testing and pregnancy. Physicians who attended the webinar opined that the concept of voluntariness in genetic testing during pregnancy can be eroded by a social “expectation” or “normalization” that women accept every test offered. One participant said:
“… professionals must be careful to convey respect for women who choose not to undergo genetic screening during pregnancy. There is a risk that repeated discussion and repeated offers of testing will send a message that the woman has made the wrong decision.”
We support the development of standard information and forms to be used as part of the consent process for genetic testing during pregnancy. This would help patients understand what is involved and help their decision-making, as well as alleviate some of the medico-legal risk for doctors.
Standard information used in consent discussions also helps ensure that information to patients is balanced, evidence-based and informative. This would reduce the burden on practitioners and mean that there is less scope for allegations of bias in the information they provide. It also has the potential to make clearer the blurred lines between clinical and research use of genomic test results, which could, for example, add to the body of information reporting the significance of a rare variant that could have been identified.
It is therefore pleasing to see the National Clinical Genomics Testing Consent Model developed by the NSW Ministry of Health under Action 4A of the National Health Genomics Policy Framework Implementation Plan, on behalf of the Australian Health Minister’s Advisory Council Reference Project. Health Genomics Group. The clinical genomic testing consent form developed to support the model can be adapted to all jurisdictions and can be used in conjunction with patient information materials to aid patient understanding during the consent discussion. Consent material has also been developed by Australian Genomics.
Labor and funding issues
Avant has also identified significant workforce pressures and funding gaps for timely and sustainable care in genomic medicine.
We welcome the announced Medicare funding for genetic carrier screening for all couples, carrier testing for cystic fibrosis, spinal muscular atrophy and fragile X syndrome from 2023. However, as the detection of genetic carriers becomes more accessible, there are some practical and medicolegal problems. consider.
With Medicare-funded testing available, the standards for carrier detection could change, and testing will become standard professional practice for physicians. More physicians 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 the appropriate Medicare article numbers for consultations. The RACGP calls for amendments to the Medicare Benefit Schedule to better support longer consultations for antenatal care which would support the use of time-based Medicare Level C and D items for longer prenatal consultations. These changes would allow more time for the detailed discussions that are required around genetic screening. An alternative would be to introduce an additional co-billed item 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 thus more people receiving positive results. The doctors we spoke with noted the importance of being able to relate to specialists and genetic counselors. They reported that patients may need genomics expertise and mental health support. Currently, there can be long delays and challenges in accessing these professionals. Time is of the essence during pregnancy, and workforce constraints can add pressure and stress to patients and doctors. In addition, it is not clear that the recently announced funding for carrier screening includes costs associated with genetic counseling to discuss the results.
Deeble Institute research has found that the workforce shortage in clinical genetics and genetic counseling is partly due to limitations in the number of professionals being trained, which in turn are linked to turnover limited workplaces available. While this may be the case for many specialties, especially in the wake of the COVID-19 pandemic and labor shortages due to attrition, increased testing availability and funding genomics means that the shortage of manpower in clinical genetics and genetic counseling must be addressed as an issue. of urgency This will help ensure that patients receive the information they need and alleviate physicians’ concerns about medicolegal risk.
The potential of genomic medicine is great, but the challenges it presents are also significant. Keeping up with rapidly advancing knowledge and ensuring that patients have enough information to make informed decisions about testing are key concerns for clinicians practicing in this area.
Now is the time to develop tools, training and support so that doctors and their patients can safely and sustainably benefit from advanced capabilities without increasing medicolegal risk.
Rocky Ruperto is a lawyer and Avant’s legal and political advisor.
Dr Sally Parsons is Medical Advisor and Claims Manager at Avant and Clinical Director and Family Practitioner in Adelaide. Avant is Australia’s largest medical advocacy 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 professional advice…