A life worth living: Identification, reproduction and expanded genetic testing in a rare chronic illness.
Stefan Reinsch (University Children’s Hospital Neuruppin & Centre of Health Service Research, Brandenburg Medical School – Theodor Fontane, Germany)
Panel: Bioethics and rare diseases
Abstract: Today, medical technologies allow far-reaching genetic diagnostics based on cell-free fetal DNA (cffDNA) from the mother’s blood. These new technologies are marked by non-invasiveness and an excess of genetic information. Unlike previous, invasive technologies like amniocentesis, cffDNA does not pose a risk for the fetus – for many women such a danger was a non-negotiable argument against genetic testing. The available excess of genetic information leads to a temptation to know more, which can put couples into a decision trap, since these new genetic tests only offer probabilistic and no definite answers. Because of these two characteristics, the new technologies have the potential to change the health service uptake, the acceptance of regulations, and the ethical evaluation of genetic diagnosis. Since 2019, cffDNA tests are offered on a direct-to-consumer basis for several monogenetic illnesses, among them cystic fibrosis (CF). These tests expand the available diagnostic arsenal consisting of carrier screening and newborn screening, making CF a condition that can now be tested before, during, and after pregnancy. CF is a rare genetic disease affecting 1:2500 people in Europe. Due to tremendous advances in therapy, the life-expectancy with CF has improved in a dramatic way over the last decades. Once a disease of childhood, people with CF now live into their 40s, study, work, and have families of their own. However, parents describe the non-sought diagnosis of CF during newborn screening still as devastating, and the prevalent view of CF is one of a ‘horrible disease’. Over the last 15 years, I conducted ethnographic fieldwork with a group of people with CF, their families, and caregivers. This paper explores and contrasts the views and practices of two groups – parents of a child who has CF and people with CF who have (or wish to have) children – regarding reproductive choices and genetic testing. Do they envision to have (more) children? Would they, based on their own experiences, consider having a(nother) child with CF? When do they want to know if their child has CF? How do they justify these choices? And what does this tell us about what they consider today a life worth living?