MAG-CMSB introduction &

Pros and cons of genetic screening in Dutch policy making in the last decades

7th Novembre 2008

Martina C CornelProfessor of Community Genetics

VU University Medical CenterClinical Genetics/EMGO Institute

Amsterdam, The Netherlands

We in the USA, both health providers and members of the public, are not applying what we know. Lenfant 2003

Translation needed

Libraries cannot be built fast enough to keep up

with modern scientific output.

But moving this knowledge off the shelves and

into practice.. requires translation.Lenfant NEJM 2005;349:868

Expectations (from 2004 presentation)

“Genomics research will dramatically accelerate the development of new strategies for the diagnosis, prevention and treatment of disease, not just for single-gene disorders but for the host of more common complex diseases, e.g. cardiovascular disease…”

Collins FS, NEJM 1999;341:28-37.

September 2007 (from 2004 presentation)

• Genomics researchers identify a variant of the Z-gene, that appears to be an important risk factor for obesity, diabetes mellitus and cardiovascular anomalies.

• Pathway (metabolomics) suggests an existing drug (Y) might be useful.

• Nature Genetics, Science October 2007• Frontpage NRC, Volkskrant, Telegraaf

Societal aspects (from 2004 presentation)

• Epidemiology– How frequent in NL; how strong association;

what is population attributable fraction• Ethical, legal, psychological, social issues

– Do inhabitants NL understand that life expectancy can improve if they participate in genetic screening? Risk perception, risk communication

• Implementation & care research– Implementation by public health service?

Uptake? Compliance? Insurance?

Societal aspects- MAG-CMSB agenda -

• Reshaping genetic screening criteria in the age of genomics – contemporary history & users perspective (Cornel & Pieters)

• Three projects on genetic predisposition for overweight/diabetes/cardiovascular disease and risk perception/motivation for interventions

Societal aspects- MAG-CMSB agenda -

•Parents perceptions towards overweight of their children. Perceived role of genetic susceptibility and health risks Detmar TNO-PG-Leiden

•Do low-educated patients with familial hypertension, diabetes or overweight have fatalistic beliefs about the effectiveness of preventive behaviour? Janssens, Erasmus MC, Rotterdam

•Using family history as a tool to increase risk awareness and to motivate preventive behaviour of individuals at risk for diabetes type 2. Henneman, VUmc, Amsterdam

2008-2012: MAG → CSG

2008-2012: MAG → CSG

2008-2012: MAG → CSG

2008-2012: magCMSB → CSG• Knowledge from bench to bedside• Translation to policy makers

– Is it allowed? Legal restrictions• Translation to health care settings

– Tailored intervention strategies• ELSI issues in multifactorial testing

– DTC; clinical utility may be low• Information to public (www.watisgenomics.nl)

• Training of primary health care workers

2008-2012: MAG → CSG Translation is co-evolution

Achterbergh et al. Health Policy 2007; 83: 277-286.

2008-2012: MAG → CSG

CSG agenda

Part 2: screeningPros and cons of genetic screening in Dutch policy making in the last decades

– Dutch publications on history & current opinions of citizens

– Input in debates Health Council, FBG..

– Screening: between hope and hype 2008– Some results forthcoming

Reshaping screening criteria• Goal

– Treatment and prevention– Reproductive choice (informed decision

making)• Confusion of tongues

– Population screening– Offer to all

• Treatment available– Citizens want autonomous choice for some

untreatable conditions– Obligation to protect

Screening in NL- Screening criteria- Time frame:

1970s: neonatal screening1980s: prenatal screening1990s: regulation2000>: new directions

- Recent developments

Wilson & Jungner criteria 1968 WHODisease-Important health problem-Latent or early symptomatic stage-Natural course must be understood

Test Treatment-Suitable test - Accepted treatment-Acceptable test - Facilities diagnosis and-Case finding continuing process treatment

Cost-Cost balanced in relation to health care

(Categories Crossroads ’99)

New issues in the age of genomics

Wilson & Jungner criteria 1968: • For early detection of existing disease• Pre dating prenatal testing and ‘boom’ in geneticsAim screening: treatment and prevention

Additional issues in the age of Genomics:- Prenatal screening and testing (abortion)- Carriers, familial aspects - Concern about social and psychological aspects:- Privacy, stigma, insurance, counseling, informed consent- Genetic risk or susceptibility in case of multifactorial diseases Aim screening: treatment and prevention,

reproductive options risk reduction options (life style, medication)

1974 newborn screening Phenylketonuria PKU, voluntary

(1981 Congenital Hypothyroidism)(2002 Congenital Adrenal Hyperplasia)(2007 package 17 disorders )

1970s: Neonatal screening

Health Council Genetic Counseling 1977 Ethics of Genetic Counseling 1980

Manifesto of emerging medical specialty

Crucial role ‘geneticist’ Hans Galjaard

First genetic screening criteria by Health Council (Privacy, stigma, insurance, autonomy, informed consent, emotions, carriers and family members)

1970s: Developing standards clinical genetics

1980s: Prenatal screening

Intense attention media and public for genetics & policy

a.o.-1987 Documentary Series ‘Better Than God’

Will we create a society without handicapped people ?

-1987 Department of Health report ‘Prevention of Congenital Anomalies’

-1988 Health Council Report on Neural Tube Defects

1980s: Prenatal screening

Intense attention media and public for genetics & policy

a.o.-1987 Documentary Series ‘Better Than God’

Will we create a society without handicapped people ?

-1987 Department of Health report ‘Prevention of Congenital Anomalies’

-1988 Health Council Report on Neural Tube Defects

1987 Department of Health report ‘Prevention of Congenital Anomalies’

• Genetic counseling/advice under the heading of prevention,‘will help minimize morbidity and mortality, just as rubella vaccination’abortion mentioned as secondary prevention

• Clinical genetic centers facilitate ‘responsible/justified parenthood’ in the transmission of hereditary disorders

• Individual choice stressed, yet societal cost and burden are mentioned ‘in optimizing outcome reproductive behavior’

Criticism• Suspicion ‘eugenic population policy’• Government no role in reproductive choices• ‘Optimizing reproductive behavior’ no task clinical

geneticist• Prevention handicaps can be effect

but is not goal of genetic counselingGoal is to inform and support

• Rights and respect for handicapped peopleImpression: government stimulates genetic services to

improve health and reduce costs health care through abortionWould parents be free not to test? Fear for pressure from government and society.

Explaining good intentionsDutch Parliament, The Hague

May 1988 State Secretary of Health:

‘The birth of a handicapped child will never be regarded as a case of failed prevention.’ (photo site Chris Schram)

-1988 Health Council:

pilot serum screening for neural tube defects (not unanimous)-1989 rejected, based on Wilson and Jungner criteria:

-bad test characteristics (false positives, negatives) iatrogenic abortions through testing -no treatment available (abortion is no treatment) -medicalization natural childbirth, unacceptable for population

Broad coalition against screening: a.o. christian democrats, ethical left-wing politicians

No niche: obstetricians divided; prenatal care in hands of midwives (low tech)

Opposition Galjaard: threat reputation clinical genetics

1988 Screening Neural Tube Defects

Consequences discussions 1980s 1:More precise and cautious terminology:- Prenatal screening and abortion: not under heading

of prevention- attention rights and facilities handicapped people, choice not to test real option See: 1989 Report Health Council ‘Heredity: science and

society’ 1994 Report Health Council ‘Genetic Screening’

Role of government:- Government careful/restrained regarding policy for

reproductive issues

- Screening Population Act (WBO)<<1996 ‘traditional’ treatability stressed

Screening for a disorder for which no treatment is available needs licensing. License given only in special circumstances.

Treatability cornerstone of Dutch screening policy

Consequences discussions 1980s 2:

Line of reasoningPopulation screening } Domain of Prevention:including genetic screening treatment availableReproductive options } Not in Domain of Prevention

no treatment available

No treatment? No screening!

No population screening for reproductive optionsIn the Netherlands no serum screening or NT until 2005

Health Council 1994 Report ‘Genetic screening’Revision screening criteria:

‘Treatment’ adapted to‘options/ courses of action/interventions’ (reproductive choices, life style)

Tension with legal framework (Population Screening Act)!

What about new issues age of genomics?

Note: dealing with tensionAmniocentesis for women of 36+ years Initially not as a population screening programme, but medical indication (age). Reproductive options in domain of clinical genetics and individual doctor-patient relationships in obstetrics.

Policy to redefine as screening programme:Licence special circumstance: it is already happening,serum screening also allowed for 36+

-Change in public attitudes, reflected in Parliament, demand for testing-New and better technologies prenatal screening-New technologies problematise separation treatable-

untreatable (MS/MS) (fetal anomaly scan)-International benchmarking? Globalization

2000> New developments

Prenatal screening: Health Council versus Department of Health

2001: Health Council advises to abolish age limit screening (triple test 2nd trimester Down’s & NTDs)

2003: Department of Health age limit continued (screening only after 35+)DISCUSSION SOCIETY & PARLIAMENT2004: Health Council avises again to offer screening to all

pregnant women (blood test and NT 1st trim. for Down’s; NTDs ultrasound 2nd trim.)

2004: Department of Health age limit continued, butinform all pregnant women about prenatal screening (not: offer screening), no reimbursement

2006: Second trimester fetal anomaly scan for all pregnant women at 20 weeks

ConclusionTreatability criterion essential for Dutch policyScreening limited to treatable disordersFocus on protection Continued restraint in governmental policy for reproductive optionsOriginating in the 1980s

Technology and public attitudes call for new policy:

Isolating screening in domain of prevention & treatment problematized by new technological developments (genomics, imaging techniques: anomaly scan/mid-pregnancy ultrasound scan, total body scan).

Protection versus autonomy :‘paternalistic’ policy versus informed public, ‘consumer genomics’

New directions

Health Council Report 2008‘Screening between hope and hype’: • Autonomy acknowledged,

yet protection more important than free choice, stress on treatability continued, esp. for programs funded collectively

• Suggestion to form Dutch National Screening Committee to safeguard quality and inform public about quality

New directions

Ministry of Health july 2008“Kaderbrief screening”

• Autonomy vs protection • Autonomy as guiding principle

⇨To be continued