86% of affected
86% of affected pregnancies detected by expanded carrier screening are missed when screening for cystic fibrosis and spinal muscular atrophy alone.1
76% of couples
76% of couples found by ECS to be at risk for severe or profound conditions pursued alternative reproductive actions such as prenatal diagnosis or IVF with preimplantation genetic diagnosis.2
80% have no
80% of children born with genetic disease have no family history of the condition.3
40% cannot correctly identify ethnicity
40% of Americans can’t correctly identify the ancestry of all four grandparents.4
In 2017, the American College of Obstetrics and Gynecology (ACOG) recognized expanded carrier screening as an acceptable screening strategy.5 Offering ECS routinely, regardless of family history or self-reported ethnicity, can improve outcomes for all patients.
In fact, the total risk of serious disorders identified through ECS* is higher than the incidence of routinely screened for conditions.
- *For persons receiving Foresight Universal (176 condition) screening. Modeled US population, excluding those with family history.
Counsyl pioneered expanded carrier screening to empower patients with advanced knowledge that can make a difference in health outcomes.
The Counsyl Foresight Carrier Screen is systematically designed to maximize the detection of at-risk couples for a pregnancy affected by inherited conditions. Counsyl offers seamless support and services to make it easy to integrate genetic screening into your practice.
This means more patients will benefit from valuable information that couples can use to make a difference in health outcomes for their children.
The true goal of carrier screening is to detect couples who are at risk of passing down serious conditions. That’s why we’ve designed the Foresight Carrier Screen to maximize detection rates for the diseases that matter the most.
Rigorous disease selection
Focusing on 175+ serious, clinically-actionable, and prevalent conditions ensures you are providing meaningful information to your patients.
Unmatched detection rates for the
vast majority of genes on our panel
(>99% across ethnicities) means
you can trust both positive and negative results.
Practice workflow support with
Whether it’s automated results reporting and tracking,
merged reports for couples,
or on-demand genetic counseling,
we support your practice with end-to-end workflow solutions.
Our experts evaluated >650 genes based on strict criteria in an effort to produce not simply more, but meaningful clinical information.
Maximizing detection rates through technology
- Full-exon sequencing provides a significant advantage over targeted sequencing in identifying carriers.
- Custom assays for prevalent, technically-challenging, difficult-to-sequence genes like 21-hydroxylase-deficient congenital adrenal hyperplasia (21-OH CAH).
- Panel-wide deletion calling with select duplication calling for certain prevalent conditions to further boost sensitivity.
- Real-time curation combines automation with manual investigation to classify variants.
We make it easy to inform and educate your patients so that they can understand the benefits of carrier screening.
We strive to make genetic screening accessible for all patients who need it.
We support merged reporting to make it easier to screen both partners, and automate management of results and follow up.
Our board-certified genetic counselors are available on-demand for all Counsyl patients to ensure results are understood.
The Counsyl Foresight Carrier Screen identifies couples who are at elevated risk of passing inherited conditions to their children. Strict disease inclusion criteria are used to select conditions that are serious, clinically-actionable, and prevalent. These conditions have various outcomes:
Improves with early intervention
There is standard, recommended treatment that is reasonably accessible to most affected individuals. e.g. Phenylalanine hydroxylase deficiency (PKU), Wilson disease, Galactosemia
Leads to shortened life expectancy
Decrease in average lifespan for >60% of affected individuals. e.g. cystic fibrosis, Tay-Sachs disease, spinal muscular atrophy
Causes intellectual disability
A significant risk of intellectual disability, either with or without standard treatment. e.g. fragile X syndrome, Smith-Lemli-Opitz syndrome, metachromatic leukodystrophy
Has limited or no treatment options
Diseases are not currently curable and effective treatment options are lacking. e.g. Krabbe disease, Bloom syndrome, Pompe disease
Who to screen
Men and women planning to start a family
When to screen
Before or during pregnancy
4 mL blood, or saliva sample
Results in 2 weeks on average
Full-exon sequencing with panel-wide deletion calling
- Hogan GJ. et al. Development and validation of an expanded carrier screen that optimizes sensitivity via full-exon sequencing and panel-wide copy-number-variant identification. BioRxiv doi: 10.1101/178350 (2017).
- Ghiossi, C.E., Goldberg, J.D., Haque, I.S. et al. J Genet Counsel (2017). https://doi.org/10.1007/s10897-017-0160-1.
- Blythe SA, et al. Clin Biochem. 1984;17(5):277-283.
- Condit, et al. 2003. “Attitudinal Barriers to Delivery of Race-Targeted Pharmacogenomics among Informed Lay Persons.” Genetics in Medicine: (5): 385–92.
- Carrier Screening in the Age of Genomic Medicine. Committee Opinion 690. ACOG. Obstet Gynecol 2017;129:e35-40.
- 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.
- 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.
- de Graaf G, Buckley F, Skotko BG. Estimates of live births, natural losses, and elective terminations with Down syndrome in the United States. Am J Med Genet 2015; 167(4):756-767.
- Cragan JD, Roberts HE, Edmonds LD, et al. Surveillance for ancephaly and spina bifida and the impact of prenatal diagnosis–United States, 1985-1994. MMWR CDC Surveill Summ 1995 Aug 25; 44(4):1-13.
- Cystic Fibrosis Foundation Patient registry 2012 annual data report. Bethesda, Maryland. ©2013 Cystic Fibrosis Foundation