The Changing Patient Experience

John FormanRare 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 sinceamong 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 1:3,8001:34,100

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

Most common conditions # patients # procedures Pregnancies

Cystic Fibrosis 23 29 13

Huntington's disease 25 51 19

Spinal Muscular Atrophy 10 16 7

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, Ante-

natal 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 non-

invasive 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