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AUGUST 2018 | Published by RCPA

Issue #083

RCPA’s concerns over direct to consumer genetic testing

RCPA’s concerns over direct to consumer genetic testing

The Royal College of Pathologists of Australasia’s (RCPA) forthcoming new position statement on genetic testing is due to be finalised and released next month. It will outline the College’s stance on genetic tests that are marketed directly to consumers, genetic testing for medical purposes, and genetic testing for non-medical purposes, important considerations for all genetic tests and important additional considerations for all direct to consumer tests. The statement will also summarise categories of genetic testing in order to assist in discussions of which tests are, or are not, appropriate for access through a direct to consumer route.

Ahead of the new position statement being released, we spoke to Dr Melody Caramins, Chair of the RCPA Genetics Advisory Committee, who, along with five other medical professionals/pathologists, wrote the soon-to-be released position statement.

“Genetic factors are recognised to play a role in almost every aspect of health and disease. Our understanding of these genetic influences is increasing, as is our ability to test for them. Many people are interested in using genetic tests; however, genetic tests can be utilised for medical and non-medical purposes. They can be used to determine ancestry, predict medication sensitivity, predict the likelihood of developing particular diseases and of passing this predisposition to their children, and identify, in the oncology setting, acquired genetic changes which may help determine prognosis or treatment. However, genetic test results can have significant health implications, not only for the individual being tested, but potentially also for their relatives when testing for heritable genetic changes,” said Dr Caramins.

“There are many important considerations for all genetic tests. For those which are used for any medical purpose it is a legal requirement in Australia that all such tests must be performed in an accredited laboratory. This ensures that the results are analytically correct and meet appropriate quality standards, and that the test meets criteria for scientific validity. It also ensures that there is appropriate clinical supervision and oversight of the testing process and its interpretation. For other genetic tests that may not necessarily be used for a medical purpose, it is strongly recommended that such tests should also be performed in an accredited laboratory, for the same reasons of ensuring appropriate standards of analytical accuracy and quality.”

Last month, the RCPA expressed concern over direct to consumer genetic testing for newborns. This followed recent reports that a new online genetic test was available direct to parents which can identify over 63 treatable conditions which occur in children, babies, and young adults.

The RCPA strongly advocates that complex medical tests always be requested by, and after discussion with, an experienced medical practitioner or other appropriately qualified health practitioner. This approach applies to all medical tests. It 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.

“We are greatly concerned at 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. 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,” said Dr Caramins.

The development of a newborn screening test requires careful consideration in order to assess what the test will achieve for the child and parents. Some of the key considerations that should be addressed before providing such a test are as follows:

  • 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. Note 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 National Pathology Accreditation Advisory Council (NPAAC) dictates the standards required of all Australian laboratories delivering medical genetic tests. The accreditation standard, ‘Requirements for Medical Testing of Human Nucleic Acids’, states that a key consideration prior to initiating a medical genetic test is that ‘The Laboratory must provide medical nucleic acid testing only in the context of a clinical service provided by a medical practitioner.’[1]

The National Health and Medical Research Council (NHMRC) has also released concise guidelines on direct to consumer (DTC) genetic testing, which highlight the importance of professional involvement and education. It explains that ‘The NHMRC encourages the involvement of health professionals, including medical practitioners, clinical geneticists and genetic counsellors in the genetic testing process’ and ‘Professional involvement is important in providing individuals and their families with balanced information and an appropriate clinical context.’[2]

Dr Caramins concluded,

“The standards for good medical practice in pathology place the patient’s welfare at the centre of all that we do. 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.”


[1] National Pathology Accreditation Advisory Council, Requirements for medical testing of human nucleic acids, Second edition 2013, NPAAC Tier 4 Document.

[2] Direct to Consumer Genetic Testing, A statement from the National Health and Medical Research Council (NHMRC), December 2014





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