Discover the evidence behind expanded carrier screening

As the pioneer in ECS, Counsyl is committed to sharing the most recent data and insights with the scientific and medical communities.

Now representing nearly half of all carrier screening performed in the US, expanded carrier screening (ECS) is supported by a growing body of published evidence. Additionally, professional society statements have evolved in support of ECS and a new CPT code will soon bring billing transparency to the screening practice.

Evidence supports validity & utility of Counsyl Foresight™ Carrier Screen?

Analytical Validity

Can the test accurately detect whether a specific genetic variant is present or absent?

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Clinical Validity

Are we accurately identifying couples at-risk of passing on serious genetic conditions?

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Clinical Utility

Are we providing patients and providers with information that will improve outcomes?

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Health Economics

Does the net health benefit outweigh the cost of screening?

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Did you know?

Counsyl Foresight™ Carrier Screen provides a >99% detection rate for most diseases screened

76% of couples at-risk of passing on a profound or severe condition change their reproductive plans or pursue prenatal diagnosis, based on ECS results¹

Recent ACOG Committee Opinions align with Counsyl approach to ECS

Highlights from ACOG Committee Opinions 690 & 6912,3
  • Ethnic-specific, panethnic, and expanded carrier screening are acceptable strategies for carrier screening
  • All patients who are considering pregnancy or are already pregnant should be offered carrier screening for cystic fibrosis (CF) and spinal muscular atrophy (SMA)
  • Providers should establish a standard approach that is consistently offered to and discussed with each patient
  • The cost of carrier screening for an individual condition may be higher than the cost of testing through commercially available expanded carrier screening panels

In alignment with ACOG, conditions screened for by Counsyl Foresight meet several of the following consensus-determined criteria:3,4

Have a carrier frequency of > 1 in 100 in at least one ethnicity

Prenatal diagnosis is available

Have a well-defined phenotype

Have a detrimental effect on quality of life

Cause cognitive or physical impairment

Require surgical or medical intervention

Have an onset early in life

Transparency on the horizon for ECS billing

The AMA has established a CPT code, effective 2019

Recognizing the need for increased transparency in coding for carrier screening panels, Counsyl applied for a Genomic Sequencing Procedure (GSP) CPT code for expanded carrier screening. This application was approved by the AMA and will go into effect in January 2019. We understand the current code stacking and miscellaneous code approaches to billing for ECS panels are problematic for utilization management. The new code will provide a more controlled billing environment, presenting the perfect opportunity for health plans to reevaluate medical policy on expanded screening.

Did you know?

Expanded carrier screening panels will account for 48% of all US carrier screening in 2017⁷

80% of children born with inherited genetic disease have no known family history⁵

40% of Americans can’t correctly identify the ethnicity of all four grandparents⁸

References

  1. Ghiossi C, Goldberg, JD, Haque IS, et al. “Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At-Risk Couples” BioRixiv 2016; doi:10.1101/069393
  2. Carrier screening for genetic conditions. Committee Opinion No. 691, March 2017. American College of Obstetricians and Gynecologists. Obstet Gynecol 2017;129:e41–55
  3. Carrier screening in the age of genomic medicine. Committee Opinion No. 690. American College of Obstetricians and Gynecologists. Obstet Gynecol 2017;129:e35–40
  4. Beauchamp KA, Muzzey D, Wong KK, et al. “Systematic design and comparison of expanded carrier screening panels” Genetics in Medicine 2017; doi:10.1038/gim.2017.69
  5. Blythe SA, et al. Clin Biochem 1984;17(5):277-283.
  6. Haque IS, Lazarin GA, Kang HP, Evans EA, Goldberg JD, Wapner RJ. Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening. JAMA. 2016;316(7):734-742.
  7. Promedica, 2016
  8. Condit, et al. 2003. “Attitudinal Barriers to Delivery of Race-Targeted Pharmacogenomics among Informed Lay Persons.” Genetics in Medicine: (5): 385–92.