Abstract
Objectives: Expanded carrier testing is acknowledged as an acceptable strategy for carrier testing by the American College of Obstetrics and Gynecology. Limited studies have investigated positivity rates of expanded carrier panels. We describe our experience with 3 commercial laboratory panels varying in size from 3 to 218 disorders. Methods: We reviewed outcomes for 3 multigene carrier screening panels: trio (3 diseases), standard (23 diseases), and global (218 diseases). All panels used targeted genotype analysis of preselected mutations via next-generation sequencing. We calculated positivity rates for each panel. Results: Positivity rates were 7.2% for Preparent Trio, 13.2% for Preparent Standard, and 35.8% for Preparent Global. The most frequent positive results in the global panel were (in descending order): abnormal hemoglobin electrophoresis, familial Mediterranean fever, cystic fibrosis, fragile X, glucose-6-phosphate dehydrogenase deficiency, alpha-thalassemia, and nonsyndromic hearing loss. Conclusions: While genetic diseases are individually rare, they are cumulatively common. Our experience illustrates that, with a panel of 218 diseases, the likelihood of identifying a carrier can be as high as 36%. Understanding panel positivity rates is one important factor for providers when choosing the right test for their practice, setting appropriate expectations for patients, and planning for follow-up counseling.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 572-577 |
| Number of pages | 6 |
| Journal | Prenatal Diagnosis |
| Volume | 38 |
| Issue number | 8 |
| DOIs | |
| State | Published - Jul 1 2018 |
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ASJC Scopus subject areas
- Obstetrics and Gynecology
- Genetics(clinical)
Cite this
Clinical experience with multigene carrier panels in the reproductive setting. / Terhaar, Catherine; Teed, Nicole; Allen, Rachel; Dohany, Lindsay; Settler, Christina; Holland, Carol; Longman, Ryan E.
In: Prenatal Diagnosis, Vol. 38, No. 8, 01.07.2018, p. 572-577.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Clinical experience with multigene carrier panels in the reproductive setting
AU - Terhaar, Catherine
AU - Teed, Nicole
AU - Allen, Rachel
AU - Dohany, Lindsay
AU - Settler, Christina
AU - Holland, Carol
AU - Longman, Ryan E
PY - 2018/7/1
Y1 - 2018/7/1
N2 - Objectives: Expanded carrier testing is acknowledged as an acceptable strategy for carrier testing by the American College of Obstetrics and Gynecology. Limited studies have investigated positivity rates of expanded carrier panels. We describe our experience with 3 commercial laboratory panels varying in size from 3 to 218 disorders. Methods: We reviewed outcomes for 3 multigene carrier screening panels: trio (3 diseases), standard (23 diseases), and global (218 diseases). All panels used targeted genotype analysis of preselected mutations via next-generation sequencing. We calculated positivity rates for each panel. Results: Positivity rates were 7.2% for Preparent Trio, 13.2% for Preparent Standard, and 35.8% for Preparent Global. The most frequent positive results in the global panel were (in descending order): abnormal hemoglobin electrophoresis, familial Mediterranean fever, cystic fibrosis, fragile X, glucose-6-phosphate dehydrogenase deficiency, alpha-thalassemia, and nonsyndromic hearing loss. Conclusions: While genetic diseases are individually rare, they are cumulatively common. Our experience illustrates that, with a panel of 218 diseases, the likelihood of identifying a carrier can be as high as 36%. Understanding panel positivity rates is one important factor for providers when choosing the right test for their practice, setting appropriate expectations for patients, and planning for follow-up counseling.
AB - Objectives: Expanded carrier testing is acknowledged as an acceptable strategy for carrier testing by the American College of Obstetrics and Gynecology. Limited studies have investigated positivity rates of expanded carrier panels. We describe our experience with 3 commercial laboratory panels varying in size from 3 to 218 disorders. Methods: We reviewed outcomes for 3 multigene carrier screening panels: trio (3 diseases), standard (23 diseases), and global (218 diseases). All panels used targeted genotype analysis of preselected mutations via next-generation sequencing. We calculated positivity rates for each panel. Results: Positivity rates were 7.2% for Preparent Trio, 13.2% for Preparent Standard, and 35.8% for Preparent Global. The most frequent positive results in the global panel were (in descending order): abnormal hemoglobin electrophoresis, familial Mediterranean fever, cystic fibrosis, fragile X, glucose-6-phosphate dehydrogenase deficiency, alpha-thalassemia, and nonsyndromic hearing loss. Conclusions: While genetic diseases are individually rare, they are cumulatively common. Our experience illustrates that, with a panel of 218 diseases, the likelihood of identifying a carrier can be as high as 36%. Understanding panel positivity rates is one important factor for providers when choosing the right test for their practice, setting appropriate expectations for patients, and planning for follow-up counseling.
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U2 - 10.1002/pd.5272
DO - 10.1002/pd.5272
M3 - Article
VL - 38
SP - 572
EP - 577
JO - Prenatal Diagnosis
JF - Prenatal Diagnosis
SN - 0197-3851
IS - 8
ER -