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.
“… 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.
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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The Canadian government says it will donate up to 200,000 vaccine doses to fight the mpox outbreak in Congo and other African countries.
It says the donated doses of Imvamune will come from Canada’s existing supply and will not affect the country’s preparedness for mpox cases in this country.
Minister of Health Mark Holland says the donation “will help to protect those in the most affected regions of Africa and will help prevent further spread of the virus.”
Dr. Madhukar Pai, Canada research chair in epidemiology and global health, says although the donation is welcome, it is a very small portion of the estimated 10 million vaccine doses needed to control the outbreak.
Vaccine donations from wealthier countries have only recently started arriving in Africa, almost a month after the World Health Organization declared the mpox outbreak a public health emergency of international concern.
A few days after the declaration in August, Global Affairs Canada announced a contribution of $1 million for mpox surveillance, diagnostic tools, research and community awareness in Africa.
On Thursday, the Africa Centres for Disease Control and Prevention said mpox is still on the rise and that testing rates are “insufficient” across the continent.
Jason Kindrachuk, Canada research chair in emerging viruses at the University of Manitoba, said donating vaccines, in addition to supporting surveillance and diagnostic tests, is “massively important.”
But Kindrachuk, who has worked on the ground in Congo during the epidemic, also said that the international response to the mpox outbreak is “better late than never (but) better never late.”
“It would have been fantastic for us globally to not be in this position by having provided doses a much, much longer time prior than when we are,” he said, noting that the outbreak of clade I mpox in Congo started in early 2023.
Clade II mpox, endemic in regions of West Africa, came to the world’s attention even earlier — in 2022 — as that strain of virus spread to other countries, including Canada.
Two doses are recommended for mpox vaccination, so the donation may only benefit 100,000 people, Pai said.
Pai questioned whether Canada is contributing enough, as the federal government hasn’t said what percentage of its mpox vaccine stockpile it is donating.
“Small donations are simply not going to help end this crisis. We need to show greater solidarity and support,” he said in an email.
“That is the biggest lesson from the COVID-19 pandemic — our collective safety is tied with that of other nations.”
This report by The Canadian Press was first published Sept. 13, 2024.
Canadian Press health coverage receives support through a partnership with the Canadian Medical Association. CP is solely responsible for this content.
HALIFAX – The Nova Scotia government says it could be months before it reveals how many people are on the wait-list for a family doctor.
The head of the province’s health authority told reporters Wednesday that the government won’t release updated data until the 160,000 people who were on the wait-list in June are contacted to verify whether they still need primary care.
Karen Oldfield said Nova Scotia Health is working on validating the primary care wait-list data before posting new numbers, and that work may take a matter of months. The most recent public wait-list figures are from June 1, when 160,234 people, or about 16 per cent of the population, were on it.
“It’s going to take time to make 160,000 calls,” Oldfield said. “We are not talking weeks, we are talking months.”
The interim CEO and president of Nova Scotia Health said people on the list are being asked where they live, whether they still need a family doctor, and to give an update on their health.
A spokesperson with the province’s Health Department says the government and its health authority are “working hard” to turn the wait-list registry into a useful tool, adding that the data will be shared once it is validated.
Nova Scotia’s NDP are calling on Premier Tim Houston to immediately release statistics on how many people are looking for a family doctor. On Tuesday, the NDP introduced a bill that would require the health minister to make the number public every month.
“It is unacceptable for the list to be more than three months out of date,” NDP Leader Claudia Chender said Tuesday.
Chender said releasing this data regularly is vital so Nova Scotians can track the government’s progress on its main 2021 campaign promise: fixing health care.
The number of people in need of a family doctor has more than doubled between the 2021 summer election campaign and June 2024. Since September 2021 about 300 doctors have been added to the provincial health system, the Health Department said.
“We’ll know if Tim Houston is keeping his 2021 election promise to fix health care when Nova Scotians are attached to primary care,” Chender said.
This report by The Canadian Press was first published Sept. 11, 2024.
ST. JOHN’S, N.L. – Newfoundland and Labrador‘s chief medical officer is monitoring the rise of whooping cough infections across the province as cases of the highly contagious disease continue to grow across Canada.
Dr. Janice Fitzgerald says that so far this year, the province has recorded 230 confirmed cases of the vaccine-preventable respiratory tract infection, also known as pertussis.
Late last month, Quebec reported more than 11,000 cases during the same time period, while Ontario counted 470 cases, well above the five-year average of 98. In Quebec, the majority of patients are between the ages of 10 and 14.
Meanwhile, New Brunswick has declared a whooping cough outbreak across the province. A total of 141 cases were reported by last month, exceeding the five-year average of 34.
The disease can lead to severe complications among vulnerable populations including infants, who are at the highest risk of suffering from complications like pneumonia and seizures. Symptoms may start with a runny nose, mild fever and cough, then progress to severe coughing accompanied by a distinctive “whooping” sound during inhalation.
“The public, especially pregnant people and those in close contact with infants, are encouraged to be aware of symptoms related to pertussis and to ensure vaccinations are up to date,” Newfoundland and Labrador’s Health Department said in a statement.
Whooping cough can be treated with antibiotics, but vaccination is the most effective way to control the spread of the disease. As a result, the province has expanded immunization efforts this school year. While booster doses are already offered in Grade 9, the vaccine is now being offered to Grade 8 students as well.
Public health officials say whooping cough is a cyclical disease that increases every two to five or six years.
Meanwhile, New Brunswick’s acting chief medical officer of health expects the current case count to get worse before tapering off.
A rise in whooping cough cases has also been reported in the United States and elsewhere. The Pan American Health Organization issued an alert in July encouraging countries to ramp up their surveillance and vaccination coverage.
This report by The Canadian Press was first published Sept. 10, 2024.
