Transcript The Changing Patient Experience - John Forman

The Changing Patient Experience
John Forman
Rare Disease Advocate
This presentation
• Introducing me
• My role in patient advocacy
• The recent history of health gains via innovation
and technology
• Looking at the current situation
• Challenges
Introducing me
• 40+ years experience of rare disease and disability in
my family
• 1990s – community disability support services
• 2000 onwards – emphasis on rare disease advocacy
• Executive Director, NZ Organisation for Rare Disorders
2000 to June 2015
• Better information & support for patients & families
• A better patient journey in health system
• More research to improve treatments
• From June 2015 – Rare Disease advocate & consultant
The family
Me with Judith,
Timothy & Hollie
Our changing experience
• Delayed, then wrong diagnosis in the 1970s
• Correct diagnosis in late 1980s
• Significant lack of information for us and the doctors,
on both occasions
• Mid 1990s, arrival of internet and growth of genetic
knowledge
• Massive change. Well informed. Out of darkness & into
the light
• Opportunity to improve care for current generation,
and change outcomes for the next generation
Roles
• From 2005 – Newborn metabolic screening advisory
group
• From 1 July 2015 – National Screening Advisory
Committee
• Advisory Committee on Assisted Reproductive
Technology – 2005 to 2011
• Antenatal Down Syndrome Screening Advisory Group,
June to Dec 2006
• Human genetic services reviews 2003? & 2009?
• Committee for standards on non-therapeutic use of
human tissue – 2006 to 2008
• Child & Youth Clinical Networks Advisory Group – 2010
to 2014
Other roles
• Chairperson, Lysosomal Diseases New Zealand, from 1998
• Board member, ISMRD, the International Advocate for Glycoprotein Storage Diseases, from 1999
• Spokesperson, Access to Medicines Coalition, from November 2005
• President ICORD, the International Conference on Rare Diseases and Orphan Drugs, from October 2014
• Board member, Rare Voices Australia, from 2013
• Chairperson, New Zealand Carers Alliance, 2005 to 2015
• Board member, Donald Beasley Institute – 2004 to 2010
• Member, IHC Advocacy Advisory Committee, 2000 to 2007
• Committee Member and Branch President, IHC Hutt Valley - 1996 to 2003
• Trustee, Personal Advocacy Trust - 1997 to 2003, Trust Chairperson 2002-03
• Evaluation team member, Standards and Monitoring Services Trust, 1997 to 2002
• Board Member, Capital & Coast District Health Board, August 2000 to Dec 2001
• Member - C&C DHB, Disability Support Advisory Committee, 2002-05
• Board member, Disability Information & Equipment Centre – Kapiti Inc, 2004-06
• Member, Office for Disability Issues Disability Advisory Council - 2005-06
Gains from science, genetics &
access to information
• Transforming ability to prevent, diagnose, treat
• Transforming patients’ & families’ ability to know,
to understand, to engage in treatment and research
• Family “X”(2001) – Mother of baby with
undiagnosed condition. No further investigations.
Gained access to Possum database. Found likely
diagnosis. Confirmed by specialist
Noble family
Forman family
• Advising families with Alpha-Mannosidosis of risks in
orthopaedic surgery
• Five out of five when first information shared
• No adverse outcomes since
among those spoken with
• Advising 20+ families on
transplant risks and benefits
• Several other examples
Contributing to research
• Developing patient-led registry and biobank
• Funding natural history studies
• Funding studies on animal models
• Publishing on screening criteria & health policy
• Active party at Royal Commission & ERMA hearings
• Challenging animal rights activists
• Exploring “rare disease finder” portal for NZ
• Clinical trials participation
Newborn Metabolic Screening in New Zealand to Dec 2009.
Disorder
Year started
# found
# missed
incidence
PKU
1969
111
0
1:21,000
MSUD
1969
9
0
1:260,000
Galactosemia
1973
22
0
1:102,000
Congenital
Hypothyroidism
1981
441
+ 49 Transient
8
1:3,800
1:34,100
Cystic Fibrosis
1983
326
27
1:6,700
(1:2,800 European)
Congenital Adrenal
Hyperplasia
1986
63
1
1:22,700
Biotinidase Deficiency
1986
8
0
1:176,000
Amino acid breakdown
disorders
2006
28
0
1:7,000
Fatty acid oxidation
disorders
2006
21
0
1:12,000
Total
1078
PGD in NZ
7 years to June 2013
# patients
# procedures
Pregnancies
Inherited conditions
131
204
71
Translocations
60
84
16
Total
191
288
87
# patients
# procedures
Pregnancies
Cystic Fibrosis
23
29
13
Huntington's disease
25
51
19
Spinal Muscular Atrophy
10
16
7
Most common conditions
Historic overview
• New Zealand health services have adopted
innovations in technology in fits and starts over the
decades
• A leader and innovator (newborn screening)
• Too often dragging the chain and delaying:
• Expanded newborn (TM/TM), Newborn hearing, Antenatal aneuploidy, CCHD, SCID, & more – especially folic
acid fortification to prevent NTDs (1000+ cases missed)
• A wave of innovation 2002-2008
Current situation
• We are behind the 8 ball again – most innovation in
screening & genomics is stalled
• NHC overview of diagnostics did not address noninvasive prenatal screening/testing, yet this could
transform ante-natal care & outcomes
• There are unaddressed problems with ante-natal
ultrasound quality
• No plan to address integration of genomic
technology and manage WGS/WES
WGS/WES in clinical practice
• New panels can increase diagnostic strike rate from
14% to 30% for developmental delay
• But work needs to be done on validation and
implementation of tests to decide
•
•
•
•
Who orders what
Who does the testing (incl local or overseas)
Who reports and interprets
If labs are to compete or align services
• And – when selective carrier status might be on
screening agenda
Challenge is for NOW
• Genome knowledge, access to information, and
advances in technology offer great opportunities
NOW
• Delays mean preventable mortality and morbidity
• It is time for action. Time to unleash a new wave of
innovation to capture opportunities
The ethical dimension
• Safety, consent, rights and interests of patients and
families remain central and paramount
• Ethical dimension needs careful consideration – but
do not reinvent the wheel
• Thoroughly canvassed on numerous occasions
• Address them but do so promptly and efficiently
Augusto and me - 2001