Download Position Statement - The Royal College of Pathologists of Australasia

Position Statement
Subject:
Genetic Tests that are Marketed Directly to Consumers
Approval Date:
July 2013 (RCPA approved) September 2014 (HGSA approved)
Review Date:
March 2017
Review By:
Genetic Advisory Committee and HGSA
Number:
2/2013
__________________________________________________________________________
This document is the result of a collaboration between the RCPA and HGSA.
Inherited 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 to determine their likelihood of
developing particular diseases, and of passing this predisposition to their children. Genetic tests
are also available for non-health purposes, such as tests for distant ancestry or for exercise
capacity.
There are two important issues that must be considered with such tests, the appropriateness of
the test and the quality of the test.
•
The appropriateness of a test is determined by the person's expectations of the test
result and the actual outcome. If the person being tested expects that the test result will
be of little consequence for them and their family, the test could be deemed appropriate
if the result is indeed of little consequence. On the other hand, if the person's
expectation does not match the significance of the test result, the test could be deemed
to be inappropriate. A person may have inaccurate expectations about the test result
because of a lack of adequate preparation for it. A person's expectations may
encompass medical, psychological, and social implications of the test result. These
considerations also extend to the person’s immediate genetic relatives.
•
The quality of a test addresses its
o accuracy (does the test result reflect the reality in the patient's body?),
o relevance (does the test result have a clear association with the risk of concern
to the person being tested?), and
o usefulness (does the test result provide information that is not already
available?).
When a genetic test is arranged in a medical setting, the healthcare professionals involved are
accountable for the appropriateness and quality of the test. In Australia, there are strict training,
accreditation, and regulatory requirements to ensure that such tests are provided in an
appropriate fashion and can provide a reliable basis for medical decision-making. Before and
after a medical test is performed, a person can expect to have appropriate counselling
regarding the test and its implications for themselves and family members. They can also
expect to have a test result that is accurate, relevant, and potentially useful.
A growing number of laboratories and private companies now offer ‘Direct-to-Consumer’ genetic
tests (sometimes called “DTC tests”), typically through advertisements on the internet. These
companies offer tests for a variety of health-related purposes including predicting the risk of
disease or mental illness, and response to medications. These tests are usually provided
without any involvement of a healthcare professional and without accreditation regarding the
quality of the test. These companies may also offer tests for other purposes, including ancestry,
paternity, and exercise capacity.
The Human Genetics Society of Australasia (HGSA) and The Royal College of Pathologists of
Australasia (RCPA) are peak national bodies representing genetic professionals involved in the
delivery of healthcare and medical testing. The importance of individuals taking responsibility for
their own healthcare is acknowledged. There is certainly a place for genetic testing in managing
the healthcare of individuals and families. However, it is essential that genetic testing which
might provide the basis for medical decision-making is carried out within a healthcare context
that assures the appropriateness and quality of the tests provided.
Genetic testing for healthcare purposes which occurs outside the framework of accountability for
appropriateness and quality is a potential hazard for the people tested and for their families.
Genetic tests for healthcare purposes should not occur outside such an accountability
framework. Similar concerns have been voiced by professional bodiesi and government
agenciesii internationally.
The availability of Direct-to-Consumer genetic tests for healthcare purposes has implications for
various stakeholders.
• The person being tested needs to consider whether the potential test result is consistent
with their expectations. This may be difficult for a non-expert to determine, and it may be
appropriate to seek expert advice. In the case of a medical test, advice should be sought
from a medical practitioner or genetic counsellor. The person being tested also needs to
consider whether the quality of the test result is sufficient for their purposes. A test which
could be the basis for significant decision-making requires a high level of assured
quality. Further explanation and recommendations can be found in
o RCPA leaflet for patients regarding medical genetic testing
[http://www.rcpa.edu.au//static/File/Asset%20library/public%20documents/Public
ations/Fact%20Files/Pathology_FactSheets_9.pdf]
o RCPA leaflet for patients regarding Direct-to-Consumer genetic testing
[http://www.rcpa.edu.au//static/File/Asset%20library/public%20documents/Public
ations/Fact%20Files/Pathology_FactSheets_10.pdf]
o NHMRC information for patients regarding Direct-to-Consumer genetic testing
[http://www.nhmrc.gov.au/your-health/egenetics/direct-consumer-dtc-dna-tests]
• The laboratory should provide sufficient information for potential clients to make these
assessments. The laboratory should ensure that all claims regarding the
appropriateness and quality of a test can be substantiated. Further recommendations
can be found in
• NPAAC document http://www.health.gov.au/internet/main/publishing.nsf/Content/healthnpaac-docs-medpathserv
• Healthcare practitioners involved in providing or interpreting test results should be
mindful that they are professionally accountable for their involvement. Practitioners
should ensure that medical, ethical, and legal issues are identified and addressed before
and after testing. This includes potential implications for genetic relatives of the person
being tested. Practitioners should avoid basing medical decisions on tests which have
not been performed within an accredited quality framework. Further recommendations
can be found in
o NHMRC Guide on medical genetic testing
[http://www.nhmrc.gov.au/_files_nhmrc/publications/attachments/e99.pdf]
• For policymakers and regulators, a consultation paper from the United Kingdom’s
Human Genetics Commission sets out a framework of principles for the conduct of
Direct-to-Consumer genetic testing. The HGSA and RCPA endorse these principles and
encourage their adoption in Australia and New Zealand by appropriate bodies such as
licensing authorities.
o A Common Framework of Principles for Direct-to-Consumer Genetic Testing
Services.
[http://webarchive.nationalarchives.gov.uk/20121102202005/http://hgc.gov.uk/cli
ent/document.asp?DocId=214&CAtegoryId=3]
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These issues may be less significant when considering Direct-to-Consumer genetic tests for
non-healthcare purposes. This is not to suggest that appropriateness and quality are irrelevant
in the delivery of other services, but the decisions arising from such tests often carry less
significance than those arising from medical tests. Issues of appropriateness and quality for
non-medical testing fall within the remit of regulators such as the Australian Consumer &
Competition Commission rather than professional healthcare organisations such as the HGSA
and RCPA.
i
Canadian College of Medical Genetics, Clinical Genetics [2012] 81:1-3. PMID: 21943145; American
College of Medical Genetics, Genetics in Medicine [2004] 6: 60. PMID 14726812.
ii
(European Academies Science Advisory Council [2012] accessed May 2013 at
http://www.easac.eu/home/reports-and-statements/detail-view/article/direct-to-co.html; UK
Human Genetics Commission [2007] accessed in May 2013 at
the/url?sa=t&rct=j&q=%22more+genes+direct%22+hgc&source=web&cd=1&ved=0CC4QFjAA&u
rl=http.
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