Abstract
The Prenatal Assessment of Genome and Exomes (PAGE) project is a UK-wide study aiming to gain a better understanding of genetic variants causing developmental problems during pregnancy. A further aim of the study is to provide an evidence-base for the introduction of prenatal whole genome and exome sequencing (PWGES) into prenatal diagnostics provided by the NHS, which is expected in 2018. This paper presents the findings of a qualitative interview study undertaken with 20 health professionals and researchers involved in the PAGE project, and explores their implications for understandings of ‘good practice’ in the uses of prenatal genomics clinically. A number of critical issues are identified that will need to be addressed in the development of a model of good ethical practice for prenatal genomics: consent, management of expectations, return of results, and professional duties in the context of PWGES. The analysis presented identifies and illustrates a great deal of complexity and qualitative richness in these issues as they arise in the day-to-day work of genomics professionals. Inclusive, critical discussion of these findings, together with the findings from other empirical studies, normative analysis and scientific discoveries resulting from PAGE, will be required to inform the development of appropriate guidelines of good ethical practice that address the needs and concerns to be encountered in daily clinical practice.
Highlights
The introduction of genomic medicine into prenatal care and its potential to provide information about the developing foetus is leading to a radical transformation of the practice of reproductive medicine
The interviews represent; a) ‘clinical’ perspectives (n = 12) from those who recruited couples for the Prenatal Assessment of Genome and Exomes (PAGE) study and who are in contact with women and couples in the clinical setting (5 midwifes, MW; 4 genetic consultants, GC; 2 patient representatives, PR; 1 research assistant involved in patient recruitment, RA); and b) ‘research’ perspectives (n = 8) from those involved in the development of the sequencing technology or the interpretation of the genomic data gathered (2 laboratory staff, LS; 6 genetic scientists, GS)
The foetal sample for PAGE was obtained from a sample taken during routine amniocentesis: an invasive procedure offered as part of the clinical screening programme aimed at better understanding abnormalities observed on ultrasound
Summary
The introduction of genomic medicine into prenatal care and its potential to provide information about the developing foetus is leading to a radical transformation of the practice of reproductive medicine. Existing prenatal testing technologies–karyotyping, microarrays, single gene and panel testing—enable the detection of certain chromosomal abnormalities (e.g. Down’s Syndrome, Turner Syndrome) or single gene disorders (e.g. cystic fibrosis, muscular dystrophies). Such technologies target a limited range of defined abnormalities. Health professionals’ and researchers’ perspectives on prenatal whole genome and exome sequencing. Programme with support from the Department of Health and Wellcome Trust through the Health Innovation Challenge Fund. The publication presents independent research commissioned by the Health Innovation Challenge Fund (HICF-R7396; WT Ref: 101177), a parallel funding partnership between the Department of Health and Wellcome Trust.
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