Abstract
Professional guidelines dictate that disease severity is a key criterion for carrier screening. Expanded carrier screening, which tests for hundreds to thousands of mutations simultaneously, requires an objective, systematic means of describing a given disease's severity to build screening panels. We hypothesized that diseases with characteristics deemed to be of highest impact would likewise be rated as most severe, and diseases with characteristics of lower impact would be rated as less severe. We describe a pilot test of this hypothesis in which we surveyed 192 health care professionals to determine the impact of specific disease phenotypic characteristics on perceived severity, and asked the same group to rate the severity of selected inherited diseases. The results support the hypothesis: we identified four “Tiers” of disease characteristics (1–4). Based on these responses, we developed an algorithm that, based on the combination of characteristics normally seen in an affected individual, classifies the disease as Profound, Severe, Moderate, or Mild. This algorithm allows simple classification of disease severity that is replicable and not labor intensive.
Highlights
Genetic carrier screening aids reproductive planning by identifying individuals at increased risk of bearing children with autosomal recessive diseases
States are the American College of Medical Genetics and Genomics (ACMG) and the American College of Obstetricians and Gynecologists (ACOG). Both ACOG and ACMG recommend offering carrier screening for some diseases to the general population, and each society recommends a different set of diseases to be offered to individuals of ethnicities at higher prior risk of carrying those diseases
Ratings of the 15 disease characteristics fell into four clusters (‘‘Tiers’’), with average rankings.9 (Tier 1), around 8 (Tier 2), between 6 and 7 (Tier 3), and General Number of Respondents Average time to completiona Profession Genetic Counselor Physician Other Health Care Professional Degreeb MD/DO PhD MS Other Specialtyb OB/GYN Perinatology IVF Genetics Pediatrics Other aExcludes three surveys which took . 3 hours to complete. bRespondents were asked to mark all that apply. doi:10.1371/journal.pone.0114391.t004
Summary
Genetic carrier screening aids reproductive planning by identifying individuals at increased risk of bearing children with autosomal recessive diseases. Carrier screening for certain severe childhood genetic diseases, such as cystic fibrosis (OMIM #219700), sickle cell disease (OMIM #603903), and Tay-Sachs disease (OMIM #272800), has been well-established for decades. States are the American College of Medical Genetics and Genomics (ACMG) and the American College of Obstetricians and Gynecologists (ACOG). Both ACOG and ACMG recommend offering carrier screening for some diseases (e.g., cystic fibrosis) to the general population, and each society recommends a different set of diseases to be offered to individuals of ethnicities at higher prior risk of carrying those diseases
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