Developments in genetic medicine over the past 50 years have had a great impact on the number and nature of decisions to be made by prospective parents. In coming years, these decisions appear set to increase as the UK government considers the introduction of pre-conception and prenatal genetic screening. Pre-conception and prenatal genetic screening involve the genetic testing of couples or pregnant women to see if they are carriers of a genetic disease. Previously, this testing was reserved only for people with a known history of genetic disease in their family, which means that they would usually be familiar with the effects of the condition.
The introduction of genetic screening would mean that everyone could have tests to see if they are carriers of genetic conditions, either before conception or after a pregnancy is established. The general public would therefore need to make decisions about being screened for conditions that they may never have experienced or heard of.
Families living with genetic conditions can offer unique insights into what it's like to live with the conditions that can be screened for: their attitudes to screening, and the way in which they make decisions about using such tests, can tell us a lot about how valuable 'experiential knowledge' is in reproductive decision making, and consequently help us to anticipate some potential issues that extending genetic screening programmes to those without such knowledge might bring.
This research programme aims to understand the role and value of experiential knowledge in reproductive decision making by focusing on families living with spinal muscular atrophy. Spinal muscular atrophy is a condition that could be tested for if genetic screening were introduced. It is a neuromuscular condition causing varying degrees of muscle weakness. One in 40 people in the general population are estimated to be carriers of spinal muscular atrophy and there is no known cure or effective treatment so, if a pregnancy is found to be affected, termination is usually offered.
Through narrative interviews with families living with spinal muscular atrophy, this project will explore the possible implications of the introduction of genetic screening. The key research question is whether direct experience of spinal muscular atrophy is important to people when making decisions around testing and screening, and, if so, how? Is experience only useful if it is experience of spinal muscular atrophy? Or can experience be used in reproductive decision making if it is of a condition that is similar to, but not the same as, spinal muscular atrophy? The research will also explore how families currently living with spinal muscular atrophy feel about and view genetic screening for other conditions, such as Down's Syndrome. The views of these families living will then be compared to views of women from the general population undergoing screening for Down’s Syndrome, through secondary analysis of an existing database, in order to better understand the influence a family history with a genetic disease can have on screening decisions.
Findings and Results
The findings of the research will be used to understand the implications of genetic screening, both for families living with spinal muscular atrophy as well as other conditions. In particular, it will facilitate an understanding of the social and ethical issues associated with screening for conditions that have variable presentations and for which the prognosis is uncertain.
The issues raised by the research programme will be of concern and relevance to policy makers considering the implications of the introduction of genetic screening, as well as the general public, for whom these issues will, in the future, translate into everyday reproductive decisions and dilemmas.
For further information please see the official website.
Dr Felicity Boardman (Principal Investigator)