Oct 29th 2014

Adj Prof Nik ZepsDirector of Research, Subiaco Hospital

Managing the practical and regulatory issues at the interface between genomics research and practice

Disclosures

• Employer: – St John of God HealthCare (Not for Profit)– Department of Health of West Australia– Department of Health of Australia

• National Health and Medical Research Council• Office of the Gene Technology Regulator• Cancer Australia

• Received funds from– Roche, Astra Zeneca, Pfizer, Merck Serono, CSL

• Member of– ACTA, AGITG, COSA, ABNA, ISBER, ASMR, ICGC

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Why do Health and Medical Research?

Effective and efficient Healthcare is founded upon evidence created by research

Improvements in healthcare delivery can only be achieved through research

Research is therefore integral to healthcare delivery

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$5 billion

Key Points

• Addressing the silent and prohibitively expensive epidemic of unwarranted variation in healthcare, is an urgent imperative for Governments and for the payers and providers of healthcare.

• The strategy to reduce unwarranted variation in healthcare must include the infrastructure necessary to systematically – IDENTIFY unwarranted variation– INTERPRET unwarranted variation– RESPOND to unwarranted variation

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• The systematic identification, interpretation and response to unwarranted variation requires a ‘self-improving’ healthcare system. Such a system combines – - the accurate collection of treatment and outcome data, – - the capacity to analyse these data to provide meaningful

feedback to clinicians and providers, and – - the capacity to undertake robust clinical trials that

provide definitive answers to important clinical questions that arise from understanding these variations

Inter-disciplinary Approach

With permission- Steve Webb. Blood CRE

Research vs Clinical practice

Key elements to delivering genomics in healthcare

12

Insti

tutio

nal

Com

mitm

ent

Platforms

Workforce

Governance

R&D

Platforms• Pathology

– Which technologies?• More try to cover = more expensive

– Currently costs exceed revenue• What is practically useful?• Information Services

– Can’t cope with large file transfer and storage– Lack of informatics in service

• Dizzying number of ways to analyse the data even from targeted panels

Workforce

• Need skilled pathology workforce– Clinical and technical (bioinformatics)

• Ensure those requesting the tests do so properly

• How to interpret results clinically– Are they useful?

Governance

• Is genomics different?

• Already have a robust NPAAC/NATA/RCPA framework

Ethical issues

• Cost of test(s)– Personal and community

• Availability of any intervention• Counselling requirements

– Including extended family• Disclosure of incidental findings (ACMG)

Consent and ethical approvals

• Revision to NS 3.4 finalised December– Sets out consent requirements– Permits

• Broad consent• Waiver of consent• Low risk activity (including pathology QA/QC)

– Clearly defines • Return of Result requirements• Import/export

– Comments on pathology uses

TTR

• All elements of genomic medicine are an opportunity for TTR– How do we manage interface between clinical

practice and research? – Are all patients research patients?

• Yes

• Who can teach/supervise our medical graduates/undergraduates?

SJG HealthCare Strategic Objective

I have read the brochure entitled “WA Colorectal Research Group”, and give my voluntary consent to the use of my biological specimens and health information for medical

research as described therein.Agree/Disagree (delete as appropriate)Signed ________________

Name (printed)________________Date ________________

• Written by consumers• Donors interviewed generally state “get

on with it”• What are barriers to use?

comments

• “Well, it’s of no concern to me” (#18); “• . . . I don’t care . . . its not much good to me” (#16); • “. . . was a no brainer” (#15); • “. . . I couldn’t care less; it doesn’t bother me at all” (#14);• “. . . no problems, I didn’t blink” (#13); • “It didn’t worry me at all” (#12); • “. . . it wasn’t an issue” (#11); • “. . . I’m surprised they even asked” (#10); • “. . . they want it they can have it . . . its no good to me” (#5); • “I didn’t even think anymore about it” (#4);• “. . . I just went with the flow” (#3); • “. . . it was a routine thing . . . there’s no big deal . . . it was no skin off my

nose” (#1).

Health informatics

• Registries have existed for a long time• Genomics simply adds a new set of fields

(albeit complex)• Genomic Research is underpinned by excellent

clinical phenotyping

ACTA’s Membership

ACTA

Clinical Trials Networks

Clinical Quality Registries

Clinical Trial Coordinating

Centres

ACTA’s Vision

ñ That all patients who require treatment for which there is

uncertainty about the most effective therapy have the opportunity to participate in high quality clinical trials.

ñ That the best evidence informing optimal heath care is based on well conducted controlled trials of the effect of interventions on clinically relevant outcomes.

Genomics in health

• Is here• Is not exceptional• Must be managed within existing frameworks• Requires commitment by funders and policy

makers to implement properly