Section of Framework - cancervoices.org.au · Web viewtic data across health service. ... Inclusion of these groups can serve to strengthen responses to emerging issues, ... o access

Consultation Draft of the National Health Genomics Policy Framework: Written Submission Template

Written Submission Template

The consultation draft of the National Health Genomics Policy Framework (the Framework) is written as an outline and poses questions throughout as the basis for consultation. These questions are focussed on the key domains for priority action.

Feedback from the consultation will enable drafting of the National Health Genomics Policy Framework to be finalised and submitted for Australian Health Ministers’ Advisory Council endorsement through the Hospitals Principal Committee.

Confidentiality of submissionsUnless otherwise indicated, all submissions may be published on the Department of Health website. If you wish any information to be treated as confidential, please explicitly and clearly identify that information and outline the reasons why you consider it confidential. General disclaimers in covering emails will not be interpreted as a specific request or taken as sufficient reason to submissions to be treated conditionally. Submissions including personal information identifying specific individuals will be de-identified prior to publication.

How to submit your written submissionWritten submissions on the consultation draft of the National Genomics Policy Framework can be sent in Word format by email to [email protected] by close of business on 8 March 2017.

Page 1 of 23

mailto:[email protected]


1. Full name: Janette Vicki Mumford…………………………………………………………………………

2. Email: [email protected]…………………………………………………......…………...............

3. Are you providing your response on behalf of an organisation?

[Yes] / [No] Yes If Yes, please specify: …Cancer Voices NSW….......………….…….

4. If applicable, please specify you and/or your organisation’s area of expertise.

Cancer Voices NSW is the peak state advocacy organisation. We provide the independent voice of people affected by cancer in NSW. Established in 2000, we are active in the areas of diagnosis, information, treatment research support and care. We work with member input, in partnership with decision makers and providers of these services, ensuring the patient perspective is heard from planning to delivery.

This application of this Framework is of particular interest to Cancer Voices NSW, as much genomic activity and health policy is related to cancer. The perspective offered in this feedback has application to all Australians. Australia has an aging population and there is evidence that cancer increases with age. This, combined with developments in genomic knowledge, increases the strong need to include genomic activities and policy in cancer health strategies. With this increasing genomic knowledge, legal and social obligations become increasing complex, and processes need to be ethically based. It is also necessary that genomic activities be sustainable.It is therefore timely for community, state and federal consultation to develop policies concerning genomic activities for Australia’s peoples.

………………………………………………………….…………………………………………………..….……………….

5. Do you consent to potentially being contacted to discuss the content of your submission further?

[Yes] / [No] Yes Phone Number (Optional): 02 47398334…………..……

6. Do you accept the terms specified above about the confidentiality of submissions?

[Yes] / [No] Yes If no, refer to the instructions in the disclaimer above.

Page 2 of 23


Section of Framework Question Response

Glossary Pg. 2-5 7. Are there other key terms referenced in the Framework which should be added to the glossary? If so, please provide details.

No additional items have been identified.

8. Are the definitions easy to understand? Do any definitions require amendment? If yes, please provide details.

Overall the definitions were easy to understand. ‘Personalised Medicine’, Precision Medicine’, and ‘Stratified Medicine’ may require amending.

These terms- ‘Personalised Medicine’, Precision Medicine’, and ‘Stratified Medicine’ are cited as being interchangeable and have the same definition.

The definition states “Personalised Medicine” as being a ‘possibly overambitious promise’. This is a value laden statement not congruent with other definitions in this Glossary. ‘Personalised Medicine’ is currently used in published academic literature. Further, this term may be more suitable for public understanding and use within the consultation process. An alternative definition for ‘Personalised Medicine’ would be a ‘phrasing used in the consultation process to

Page 3 of 23


Section of Framework Question Response

describe tailoring treatment due to inherited disease or disease caused by genetic variance’.

Continuing with definition as provided for ‘Precision Medicine’ and ‘Stratified Medicine’ again has a value statement in ‘the realistic effects of medicine at the population level’. Given the definition is worded as ‘the likelihood of responding to a particular therapy’, ‘realistic’ should be replaced by ‘expected’ or ‘predicted’.

Page 4 of 23


Preamble Pg. 7-8 9. Does the Preamble provide a sufficient overview of the Framework? If not, please provide further details.

It is with concern to Cancer Voices NSW that the Preamble does not mention Consumer or Community attendance, input or consultation at the national or state level of the processes to assist with the develop this framework.

Cancer research currently has a significant focus on genomic knowledge, its use in understanding this disease and in developing treatment options. This knowledge will bring change to the paradigm of cancer and health in society, and as such community input is essential.

11. Are there linkages with other key frameworks or strategies that should be explicitly referred to in the Preamble? If yes, please provide details.

Additional strategy and frameworks for synergy would be the National Bowel Cancer Screening Program, Health registries, Cancer Registries, National Cancer Screening Register and the National Cervical Screen Program.

Any program were genomic data is gathered from children, such as The Newborn Bloodspot Screening Framework, will require provision for data to be consented to be included once the individual achieves adult status.

Page 5 of 23


13. Is a three year timeframe sufficient for the Framework? Please explain your answer.

Given the rapidly changing landscape of genetic research, combined with growing public knowledge and expectations, this time frame may not be flexible enough to respond and include necessary changes. Further, social change and attitudes with regard to this technology may shift rapidly and require prompt attention by this Framework and a National Genomic body. .

It is a further concern to Cancer Voices NSW that genomic policies are not being coordinated by a dedicated ongoing national body.

Strategic Context Pg. 10-12 14. Are the most critical international and national activities referenced? If no, please provide details of what may be included and why it is important.

A document for consideration is the UNESCO Universal Declaration on the Human Genome and Human Rights 1999. This is a foundation document concerning the rights of the individual, to have given consent, confidentiality, provisions from discrimination as a result of genetic factors and ethical behaviour with genetic research.

16. Does the Strategic Context provide a clear case for improved national consistency in genomics policy? Please explain your answer.

The Strategic Context has an emphasis on the mass population, downplaying the individual, who this framework is also the meant to serve.

Page 6 of 23


There is need for a macro/ micro consideration; of ‘big data” and the individual, the ultimate recipient of genetic health services.

Missing from the Strategic Context is the expected changes to the population over time. With Australia’s aging population, there is an expected increase in cancer rates. Cancer is not currently considered a common chronic condition, and as such is not covered in the third paragraph.

The increasing knowledge in genetic activities of cancers means there will be increasing demands on treatments, counselling, pharmacogenetics and cost reimbursements through private and public insurance coverage. The impacts of these demands is considerate and worthy of inclusion under Strategic Context, as the demand for these services will be by many seeking health services.

The reference claiming genomic diagnostics and treatments as improving the circumstances of a few is now over 5 years old. With continuous research in the genome and genomics the landscape can be expected to have altered since this time. What is not considered or provided for in the Strategic Context, is a provision for

Page 7 of 23


changes due to current research, and the potential impacts on clinical practice.

An Australian Perspective

Pg. 13-14 17. Are there additional barriers, issues or challenges to integrating genomics into the health system that should be included in this section? If yes, please provide details.

Additional barriers identified by Cancer Voices NSW include

1 It is with the utmost concern that this Genomic Framework does not address the issues of biospecimens used in genomic activities and consequent genomic data generated. It is noteworthy that current consent forms used for research includes comments on future uses of biospecimens and statements that identifiable personal information will not be available. There may be no statements concerning the use of genetic data and sharing with other agencies. There is no consent provision for the use of personal genomic data to be included broad health strategies by state or federal bodies.

This raises two issues- firstly, this highlights an inadequacy with the consent process. Secondly, this may prevent existing genomic data from being used for inclusion in future big data planning.

Page 8 of 23


2 Australia modern society and its mobility. This impacts on family and knowledge of inherited conditions and communication within families. This is further hampered by health data being held within state health systems and lack of access to this data.

3 Currently missing are clear gateways into genetic services. The coalface of health services is the General Practioner who may or may not have adequate training in genetic knowledge, genetic services and social impacts.

4 The limitations of Direct to Consumer testing as not adequately understood by the Australian public. There are additional concerns of security of information and potential commercialisation of this data.

5 There exists, currently, a lack of integration of an individuals’ genetic data across health service. This is acknowledged in the Framework, but to date, little has been achieved to integrate other health data across health disciplines. This is followed by a lack of genomic knowledge within the health workforce, who may access health data, and presently have little awareness of the impacts or concerns generated by this

Page 9 of 23


data on an individuals’ file.

6 A potential threat is commercial interests impeding patient outcomes and larger health economics. This has been evident in the court cases concerning the commercialisation of the BRAC gene testing.

7 Commercial interests should never be placed above provision of quality health care to individuals. This ultimately represents better value to the health economy and confidence in the Australian health system.

A National Health Genomics Policy Framework for the next 3 years

Pg. 15 18. Are the key guiding principles appropriate? Please explain your answer.

The guiding principles have not included consumers or community bodies in the priority setting and decision making. Inclusion of these groups can serve to strengthen responses to emerging issues, to be accountable and enhance transparency.

Cancer Voices NSW considers there is strong evidence that consumers add value in health consultation processes. This is evidenced by Cancer Voices NSW activity in the provision of training for consumers and support of consumers engaging with researchers. The

Page 10 of 23


value of consumers in research is further endorsed by the provision of NHMRC requiring consumers be included in research consultation and applications process.

Enablers Pg. 16-17 19. Are there additional enablers that should be included? If yes, please provide details.

Professional colleges and universities need to upskill the current workforce as well as upskilling Australia’s workforce. It has been well identified in this Consultation Draft that the existing workforce is not sufficiently literate in genomic knowledge.

Strategic Intent Pg. 16-17 20. Is the Strategic Intent of the Framework appropriate? If no, what would you suggest?

The strategic Intent of the framework does not feed into the Strategic Context. The Strategic intent clearly identifies the individuals along with the population whole. This feedback has identified the lack of appropriate consideration in Question 13.

The Strategic Intent would be better placed prior to the Strategic Context.

Priorities Areas Pg. 17 21. Are the priority areas appropriate? Please explain why or why not.

Cancer Voices NSW considers the priority areas to be appropriate with the following comments.

Page 11 of 23


1 The listing of ‘ethical , social and legal consideration’ is, appropriately, first.

2 The governance arrangements need to have consumer or community representation incorporated to increase transparency and accountability.

3 General practioners, as the gateway into health services, be supported in assisting the genomics workforce, supplying knowledge to clients and provide reference into appropriate services.

4 Growing genomic knowledge requires appropriate and adequate funding in research to improve health outcomes. This is especially notable with regard to rare diseases and underfunded health conditions.

It is also noted that services to be provided across Australia’s Indigenous and multicultural society with regard to equity to access despite geographical and socioeconomic position. It is especially necessary for services to Australia’s indigenous population to be culturally appropriate and supported in genomic services.

5 For genomic services to be congruent with population needs across life stage, as well as

Page 12 of 23


cost effective and sustainable.

6 Of priority is that the rights of the individual to be protected and maintained.

Overarching priority – ethical, social and legal (regulatory) issues

Pg. 18-24 22. Is the placement of ethical, social and legal (regulatory) issues as an overarching priority appropriate?

Our health is in context of our social lives. Ethical and legal considerations are interwoven into our decisions, our lives and our society. It is most definitely an overarching priority. The means to health through genetic information is subjected to these considerations. Cancer Voices NSW considers these issues should be placed before the Australian Perspective Issues.

24. Should these issues be considered prior to the six priority areas, or after?

It is the opinion of Cancer Voices NSW that ethical, social and legal issues should be first considered first, not after the six priority areas.

It is only with these first, can the priority areas be developed with a sound foundation for the Australian communities and society overall. Ethical aspects of genomic knowledge feed into clinical practice as well as equity of access. Socially safe and socially supported use of

Page 13 of 23


genomic knowledge is necessary to reduce discord towards this science, uses and uptake of this technology. The legal issues are required to be resolved prior to governance arrangements being made

26. Are there any other broad ethical, legal or social issues that should be addressed under this priority? If yes, please provide details.

Cancer Voices NSW considers the following items necessary as part of the Ethical, Social and Legal issues.

There may be differing consideration for genetic data compared to biospecimens used for genetic purposes. This needs to be clearly articulated and form part of the literacy for the health workforce and the public. This is described in more detail in Question 27.

From the list of issues from the topic of Consent-

1 Missing from the list of issues for consent is the social considerations of Australia’s indigenous peoples and other cultural groups which may differ from mainstream Australia.

2 At no time should individuals choosing to remove their consent for use of their data encounter difficulties. The decision to remove

Page 14 of 23


consent should be supported as a fundamental right of all citizens and processes should be built to incorporate and respect this potential decision of individuals.

Direct to Consumer Testing

1 While DTC testing may be prohibited for use in Australia, test kits readily are available and advertised on media- of concern is the legal standing with regard to third part use of data-such as the on selling of data, security of personal data and other current unregulated uses.

Priority Area 1 – Strong leadership and governance

Pg. 25-26 27. With regard to Priority Area 1 – Strong leadership and governance, is anything missing or what should change, for:

(a) the current situation;

(b) why is this important;

(c) opportunities for improvement; and/or

(d) what the future looks like?

(a) Cancer Voices NSW considers national coordination be a priority as this is a fast moving area of science and social impact.

(b) This is important for Australia, to best serve the Australia public in health management, as well as taking part on the international stage for leadership.

(c) As previous discussed there exists real opportunity for consumer and community

Page 15 of 23


involvement, which has been lacking to date.

(d) The future will contain a growing awareness by the public of services and the potential for genomics in health. There will be greater genomic literacy, notably for individuals and families most affected by health conditions. This will raise demand for services and expectations of research to fulfil expectations of better treatments and health outcomes.

Priority Area 2 – A skilled and literate genomics workforce

Pg. 27-29 28. With regard to Priority Area 2 – A skilled and literate genomics workforce, is anything missing or what should change, for:





(a) The shortage of trained genomic workforce personnel may be a current worldwide occurrence.

(b) Recruitment from overseas may prove difficult if there is a worldwide shortage of personnel.

(c) The listed opportunities for improvement are subject to funding and training being available. Without this, subsequent knowledge and data availability will not exist. This will prevent the development of future services to those in need and raising health costs.

(d) A vision of the future and its reality can only

Page 16 of 23


be achieved by identifying desirables and working forward from the current position.

Priority Area 3 – Application of genomic knowledge is evidence based, high quality and safe

Pg. 30-31 29. With regard to Priority Area 3 – Application of genomic knowledge is evidence based, high quality and safe, is anything missing or what should change, for:





(a) Cancer Voices NSW considers the rights and sovereignty of an individual is critical.

(b) This protection of the individual is critical to in reducing the impact and harms of this disruptive technology; from discrimination, data and biospecimen theft, safety due to minimisation of health harms and social inclusiveness.

(c) Opportunities for improvement are that these rights are protected and discrimination in all forms is reduced.

There is opportunity for improved and transparent processes in the collection of biospecimens, appropriate checks in these processes and disciplinary actions for those who breech ethical and legal requirements.

(d) Multidisciplinary care and patient centric care is currently standard procedure for cancer patients. This model is expected to continue and will be enhanced by greater understanding of

Page 17 of 23


genomic data. In the future, this model will be used for all patient care.

Priority Area 4 – Integration of genomic knowledge into person-centred health care, supported by equity of access to services

Pg. 32-33 30. With regard to Priority Area 4 – Integration of genomic knowledge into person-centred health care, supported by equity of access to services, is anything missing or what should change, for:





(a) Missing are the psychosocial and spiritual needs of Indigenous Australians who may have different requirements from this technology than mainstream Australians. This is also true of other social groups in the Australian multicultural social landscape.

(b) This is important as different social groups will have different social and religious needs.

(c) Opportunities for improvement include identifying special interest groups such as those with Lynch syndrome, Huntington’s disease, rare diseases and cancers. Consultation and consideration of their needs will help refine services for those affected. These groups will have knowledge on the specialised needs of their groups.

(d) The area of electronic health records has been long recognised as assisting with coordination of care is and improving clinical pathways. For genomic services this will be

Page 18 of 23


critical in the future.

Priority Area 5 – Sustainable investment in health genomics

Pg. 34-35 31. With regard to Priority Area 5 – Sustainable investment in health genomics, is anything missing or what should change, for:





(a) The fragmentation and lack of equity of the existing services requires addressing. Further there is a lack of equity across disease.

(b) The fragmentation reduces public confidence in the health system. Additionally, the lack of equity could cause resentment and disharmony in sections of the community who are less well serviced. This is evident in the disparity of services available to cancer types. This is in part due to public awareness and less stigma of some cancer types, as well as private fundraising that is used by organisations to provide genomic services.

(c) Opportunities for improvement for genomic research will benefit from changes to the funding model used by the NHMRC. The current funding model has been criticised for its lack of support in research for rare cancers and other rare diseases. Additionally, that this model is outdated for contemporary research being conducted and

Page 19 of 23


contemporary Australia health expectations.

(d) The future will recognise and actively work to reduce health disparities due to inequitable investment in disease and cancers. The future will support funding in genomic research recognising that long term investment required to support the research workforce and this will improve results in health economics.

Priority Area 6 – Effective and appropriate collection, management and utilisation of genomic data

Pg. 36-38 32. With regard to Priority Area 6 – Effective and appropriate collection, management and utilisation of genomic data, is anything missing or what should change, for:





(a) The current situation does not make provision for the separation of biospecimens and the data from human biospecimens.

(b) Biospecimens is required for genomic work and the genomic data generated as a result of this investigation can be used at a micro and macro level. Micro for the individual and macro for ‘big data’ and large scale heath service provision.

(c) As acknowledged by this draft Framework, there is a lack of understanding by the public and health services about this issue. A change is needed and is critical for public acceptance of the use of genomic data for themselves, but also

Page 20 of 23


to give permission for use by third parties. Health services will require training and knowledge to advise the public enabling better health decisions, to assist with personal positive health outcomes but also to provide endorsements of security of use of this technology for all Australians, and the role their genomic information contributes to large scale health data.

(d) The future will have a more diverse range of health professionals and greater specialisation of within skillsets. Genomic check-ups will be part of regular health checks to keep pace with knowledge generation.

Implementing the Framework

Pg. 39 28. Is the suggested approach to implementing the Framework reasonable and appropriate? Please explain your answer.

Cancer Voices NSW consider it disappointing given the statement that Australia is not as far advanced as other countries to implement a Genomics Health Policy. This, and the current developments will show more fragment over time, necessitates the need for prompt national attention to this matter.

Overarching questions (Relates to the entire Framework)

Pg. 39 29. Is the structure of the Framework appropriate and easy to follow? Please explain your answer.

The structure of the Framework is currently appropriate and easy to follow. Any changes as result of this feedback need to be considered and should not reduce ease of understanding or

Page 21 of 23


appropriateness of context.

31. How could the review and evaluation of the Framework be strengthened?

To strengthen this Framework Cancer Voices NSW would recommend community or consumer representation be included at all stages and levels of design and implementation.

33. Do you have any other feedback on the Framework?

This Framework is been given a shorter public consultation time and it is disappointing that many institutions who could have had significant input, will be preparing research grant requests.

35. Are there any issues you would like covered at the stakeholder consultation forums in February 2017?

The stakeholder meetings for some locations were provided at short notice, not allowing for greater consideration of the document and the changes it will entail. Cancer Voices NSW hopes future consultation will have a larger lead time to enable effective deliberation of issues.

Genomics Framework One Page Outline and the Companion Document

36. Do you have any feedback on the Genomics Framework One Page Outline (noting that it provides a summary of the Framework) or the Companion Document?

The Genomic Framework One Page Outline should have been part of both the summary and the Companion documents. It is a matrix of design that covers many levels and provides clear insight into the overall envisaged

Page 22 of 23


activities.

References

Australian Institute of Health and Welfare 2014. Cancer in Australia: an overview 2014. Cancer series No 90. Cat. no. CAN 88. Canberra: AIHW.

Marker, J: Kay, D: Mumford, J. 2016. Consumers and communities- key partners in biobanking. Australian Biobanking Networking Association Conference Adelaide. 3-4 October 2016.

O’Doherty, KC; Hawkings A. 2010. Structuring public engagement for effective input in policy development on human tissue biobanking. Public Health Genomics. 13, 197-206.

Thank you for completing the consultation.

Your response ID is ANON-Z4B5-M522-B. Please have this ID available if you need to contact us about your response.

Page 23 of 23

Documents

Section of Framework - cancervoices.org.au · Web viewtic data across health service. ... Inclusion of these groups can serve to strengthen responses to emerging issues, ... o access