Complex medical tests should always be requested by, and after discussion with, an experienced medical practitioner, says the RCPA
This approach applies to all medical tests, says the Royal College of Pathologists of Australasia, and is particularly relevant for complex genetic tests that predict the medical future of a child.
It is not appropriate for genetic tests that deal with significant clinical issues to be marketed directly to patients, or for professional support to be provided only after the testing has taken place, says the RCPA.
“We are greatly concerned at recent reports indicating that direct to consumer genetic testing for babies is taking place without the parents having had a discussion with their doctor prior to the test being done,” says Professor Graeme Suthers, genetic pathologist and spokesperson for the RCPA.
“The RCPA acknowledges that expanded screening of newborns could potentially provide information that may assist parents in caring for their child or making further reproductive plans.
“The College also supports the broad provision of information about genetic tests to the public. However, the provision of tests which predict the future of a person’s health carries significant ethical and social implications and requires appropriate professional oversight.”
The development of a newborn screening test requires careful consideration in order to assess what the test will achieve for the child and parents, he says.
He says some of the key considerations that should be addressed before providing such a test include:
- The selection of and justification for the genes included in the test.
- The performance of the test in terms of both detecting genetic mutations and in the impact on the child’s health. He notes that not all mutations cause disease.
- The benefit or overlap of the genetic test, versus current newborn screening programs that are already provided free nationwide.
- The integration of such tests in the overall patient care pathway, including access to other tests, medical assessment, and treatments that may be required.
- Consultation with professionals involved in the established care pathways for babies, such as obstetricians, clinical geneticists, paediatricians, and pathologists.
- The education of requestors and access to professional genetic counselling.
“The standards for good medical practice in pathology place the patient’s welfare at the centre of all that we do,” he says.
“To ensure that this focus is maintained, it is essential that an experienced and independent medical practitioner be involved in guiding the selection, requesting, and use of complex medical tests.
“The RCPA does not support any organisation which offers direct to consumer testing without the involvement of the patient’s medical practitioner.”
The RCPA has previously stated emphatically that it did not support the Sigma screening program through Amcal, which caused controversy in 2017.
“The RCPA does not endorse or have any partnership or alliance with any programs in relation to the non-medical requesting of pathology tests,” it said at the time.