1. Professor of Community Genetics and Public Health Genomics
Quality of genetic counseling from a Public Health Genetics perspective
Martina Cornel
Professor of Community Genetics and Public Health Genomics

2. Two important aspects
Do we prioritize the services that deliver most value
Prevent health damage (neonatal screening)
Make reproductive choices possible
Diagnosis in children with developmental delay
Do we guarantee access to these services for all that need them
Global
In health plan, insurance

3. What to prioritize?
considerations of medical benefit, health need and costs
evidence of benefit in terms of clinical benefit,
benefit of information for important life decisions,
benefit for other people apart from the person tested and the patient specific likelihood of being affected by the condition tested for
Severin et al. European Journal of Human Genetics (2015) 23, 729–735

4. HTA and health economics needed
How much do we prevent if money is spent to genetic services instead of….
Comparing “genome first approach” to looking for a diagnosis with dysmorphology, MRI, biochemical testing,…
If limited funding (waiting lists) – what should we do first?

5. Access for all?
“The intense focus on quality of service for the patients treated has diverted our attention from the impact of our services not just on those patients who have referred themselves or have been referred, but on all the people in the population” (Muir Gray)
People who
would benefit
most from the
specialist
service
People
receiving
specialist
service
All people with
the condition

6. Mainstreaming
Reach more people for whom we have useful services, but potentially to be offered by oncologists/ cardiologists/ primary care physicians
Good counseling?
What is needed?

7. Screening programs Public health and genetics come together
How can we optimize neonatal screening
High PPV, few false positives, limit uncertainty
Stratification of breast cancer screening
For some starting earlier/later
For some less/more frequent
Stratification of colon cancer screening

8. Genetic counseling? Appropriate information Which conditions
Which choices
In mainstreaming delivered
By pediatricians, cardiologists, oncologists, midwives, nurses, etc