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

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

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

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?

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

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?

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

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