Carrier screening. Disease prevention vs cost effectiveness

Abstract

Patients come to fertility specialists to increase the probability of having a healthy child. According to the Online Mendelian Inheritance of Man there are nearly 24,000 heritable disease and phenotypes with which physicians and patients must contend. The American College of Obstetricians and Gynecologists have recently published committee opinions which add expanded carrier screening as an acceptable and recommended method of preconception screening. This allows traditional methods of ethnic based screening to be supplanted by more universal methods. In the face of data which shows that self-reported ethnicity can change with time and is impacted by the individual's culture, religion, language, behavior and psychology, this takes an uncertain factor off the table for patients and providers. Further, in the era of increased cost efficiency in genomic medicine, expanded carrier screening presents an increasingly cost effective method of preconception counseling. The curation of these panels needs to be an area of great focus and continued maintenance. It is recommended that these conditions have a carrier frequency of >1:100, have a well-defined phenotype, have a detrimental effect on quality of life, cause cognitive or physical impairment, require surgical or medical intervention, and have early onset in life. As we continue to discover new genetic causes of disease these panels will inevitably evolve. The identification of carrier status in couples allows for enhanced clinical decisions to be made. This includes options such as preimplantation genetic diagnosis, use of donor gametes, adoptions, or even a discussion about discontinuing effort to build a family. Traditionally utilization of PGD in at risk couples has been low given the limits of IVF including time, low success rates, high cost, and multiple gestation risk. However, with modern IVF, many of these concerns are greatly diminished allowing for more access to couples to this technology. For the clinician, this paradigm which avoids the need for ethnic based assessment allows for improved liability coverage and presents a cost effective approach to care when the cost of traditional screening methods in addition to the healthcare savings when heretofore undiagnosed carrier states result in an affected child are calculated. Reducing the burden to both patients and providers will likely lead to continued increased utilization in preconception care.