An Analysis of the Demand for and Cost of Preimplantation Genetic Diagnosis in the United Kingdom

Abstract

Research in the field of preimplantation genetic diagnosis (PGD) has concentrated on increasing the number of diseases diagnosed, different strategies for single cell analysis and improving efficiency and reliability. Of equal importance are clinical issues such as the demand for and cost of PGD. This study assesses patient awareness of PGD and its potential benefits; additionally the awareness, attitudes and referral patterns of Assisted Conception Units, Regional Genetics Centres and Health Authorities (funding bodies) have been analysed to establish the demand for PGD within the United Kingdom. The licensed units are able to perform 128 cycles of PGD annually, however 256 cases were referred within the last year. It is clear that the currently licensed units operating at their present capacity are unable to meet the demand for PGD in the U.K. Concerns raised by this study include the unequal geographical distribution of PGD services and the lack of a uniform funding policy by Health Authorities. The investment in personnel and technology to establish a PGD service is considered and a costing provided. We estimate an initial investment in the region of £139 000 with annual running costs of £55 000. This information should contribute towards an appropriate allocation of resources at a national level in the U.K.

High-risk consumers’ perceptions of preimplantation genetic diagnosis for hereditary cancers: a systematic review and meta-analysis

“…An additional source of discrepancy about PGD for hereditary cancers versus other genetic disease is the concept of increased susceptibility versus inevitability. 20,50 FAP is an early-onset disease which may influence testing at a young age, 51 compared with BRCA testing which is typically not recommended before the age of 25 years. 52 A 2009 study showed that less than half of clinics surveyed that perform PGD and require genetic counseling assessed how well patients understood the information disclosed during a counseling session.…”

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“…Developing a PGD program requires a considerable initial investment in expensive equipment (2). For single-gene defects, like CF ( F508) or SMA (telomeric deletion), a single-cell genetic test can be developed for standard gel electrophoresis (Bio-rad electrophoresis unit: ∼500 US$) or fragment analysis (automated fluorescent DNA sequencer: ∼100,000 US$).…”

“…However, many diseases are caused by a spectrum of mutations (e.g., cystic fibrosis (CF) and beta-thalassemia), with some occurring very rarely within the general population. Since developing a new assay involves a considerable investment of time and resources (2), it is impractical for PGD centers to standardize protocols case by case. Therefore, advancements in the diagnosis of singlegene defects have all stemmed from the necessity to make each test rapid, accurate, and cost-effective, while also offering it to as large a patient base as possible.…”