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NHMRC Draft Statement and Resource for Consumers: Direct-to-Consumer Genetic Testing submission

ID: 
10
Personal Details
First Name: 
Liz
Last Name: 
Milward
Questions
Q1. Is the draft Statement presented and written in a manner that is easy to understand?: 

Yes. One thing that was confusing was that it appeared to be treating the concepts 'direct-to-consumer' and 'high-throughput'/'genome-wide' testing as equivalent. 

Q2. Is the draft Statement comprehensive and does it cover all of the key issues?: 

No - pharmacogenomics testing is not covered (possibly deliberately?) and also it does not appear to address explicitly issues relating to predicting or testing child genotypes. While covered under the broad umbrella of 'prediction of future susceptibility' there are a range of important issues very specific to testing relating to children and it is noteworthy that companies such as [NHMRC has removed third party information] will conduct testing of children apparently without oversight.
On a separate issue while appreciating the need for caution, the Statement appears very imbalanced and one-sided, for example in failing to recognise that pre-emptive genome-wide genetic testing can offer considerable benefits for large numbers of people. Concerningly it provides no avenues for moving this forward responsibly, even though this is now rapidly entering practice overseas, and if anything, will if anything even disadvantage Australians compared to the more balanced ways things are moving ahead in many other places. High throughput tests can have very high pre-emptive clinical utility, as illustrated for PGX by the PREDICT study for example and it is potentially easy and relatively cheap to validate any results obtained by DTC genome-wide testing by PCR. The statement seems to be very limited in perspective and depth and out of date in places. Just in terms of a small number of conditions such as cystic fibrosis and haemochromatosis alone, high-throughput testing done responsibly is going to be ofveyr high clinical utility and value as well as economic value.

While fully agreeing that genetic information should not be provided without appropriate information, support and counselling, the statement also does not appear to recognise that most medical practitioners, even many practising clinical genetics and genetic counsellors were trained in traditional testing approaches and have very little direct experience or deeper level understanding of high-throughput genetic testing or training in ELSI specific to this kind of testing.

Q3. Is there any further advice that should be included in the draft Statement on the accuracy of DTC genetic testing?: 

Yes see above

Q4. Is more advice needed in the draft Statement on legal risks, risk rated insurance or privacy issues?: 

The Statement does not appear to be up to date in terms of the most recent changes in genetic privacy laws that came out in March 2014 which apply to all practitioners not just those in private sector. The Statement does not appear to recognise that many insurance suppliers have behaved responsibily with regard to genetic testing particularly for preventable health issues and that there are already avenues for consumers who are unfairly treated. As it stands, the statement with regard to insurance is presented very negatively. It is not appropriate to scare people in an unbalanced way about insurance when there may be serious health consequences associated with not getting tested for some people.
The info on the privacy laws was presented without any balancing statements that consent would generally be sought before making someone's genetic information known to another and that this is restricted to situations where serious harm can be prevented. Many people would wish to have this info made known to them if they were the person at risk of serious harm however the way the privacy laws are given, people are not given the counter perspective. While I'm sure well-intentioned, this is not to my mind an appropriately ethically balanced way of presenting information.

Q5. Is more advice needed in the draft Statement on the usefulness of DTC genetic testing?: 

Yes see above (apologies for not elaborating - time issues)

Q1. Is the draft Resource for Consumers presented and written in a manner that is easy to understand?: 

Yes

Q2. Is the draft Resource for Consumers comprehensive and cover all of the key issues?: 

No, see above. In addition there are various ways genome-wide testing can be handled, including allowing consumers to decide which information they want to be given in advance e.g. only things that can be treated or may affect future offspring, or electing to have other information handled through their GP or another medical practitioner. This doesn't seem to be well-addressed.

Q3. Is there any further advice that should be included in the draft Resource for Consumers on the accuracy of DTC genetic testing?: 

Yes see above

Q4. Is more advice needed in the draft Resource for Consumers on legal risks, risk rated insurance or privacy issues?: 

Yes

Q5. Is more advice needed in the draft Resource for Consumers on the usefulness of DTC genetic testing?: 

Yes see above

Page reviewed: 9 December, 2014