Counsyl Foresight™ Carrier Screen

Identify more couples
at risk to pass down serious inherited conditions

The Counsyl Foresight Carrier Screen is designed to maximize detection of at-risk couples for serious, prevalent, and clinically-actionable conditions.

Why Counsyl Foresight

Utmost confidence in every result

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.

 

A panel with purpose:
Unmatched detection of serious disorders

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.

View full disease list ›

Superior technology

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
Counsyl CompleteTM

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.

Prioritizing clinical significance in panel design1

Our experts evaluated >650 genes based on strict criteria in an effort to produce not simply more, but meaningful clinical information.


Flexible panel choices with Foresight Carrier Screen, including:
cystic fibrosis and spinal muscular atrophy

 

Universal carrier screening for cystic fibrosis and spinal muscular atrophy is recommended by ACMG and ACOG.2,3

30% more pregnancies affected with cystic fibrosis* or spinal muscular atrophy can be identified using Counsyl’s testing methodology.4

*when compared to a traditional 23 mutation panel

Why Expanded Carrier Screening

Offering carrier screening based on family history or ethnicity could lead to missing affected pregnancies for serious conditions.

86% of affected
pregnancies missed

86% of affected pregnancies detected by expanded carrier screening are missed when screening for cystic fibrosis and spinal muscular atrophy alone.4

76% of couples
took action

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.5

80% have no
family history

80% of children born with genetic disease have no family history of the condition.6

40% cannot correctly identify ethnicity

40% of Americans can’t correctly identify the ancestry of all four grandparents.7

 Counsyl Foresight Carrier Screen Spotlight:

To help educate healthcare providers on the clinical impact of expanded carrier screening, we are highlighting conditions on the Foresight Carrier Screen such as 21-hydroxylase-deficient congenital adrenal hyperplasia (21-OH CAH).

Let’s make expanded carrier screening (ECS) routine

In 2017, the American College of Obstetrics and Gynecology (ACOG) recognized expanded carrier screening as an acceptable screening strategy.8 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 COMPLETETM

The supporting services through Counsyl Complete helps seamlessly integrate expanded carrier screening into your practice workflow.

Education

We make it easy to inform and educate your patients so that they can understand the benefits of carrier screening.

Access

We strive to make genetic screening accessible for all patients who need it.

Results

We  support merged reporting to make it easier to screen both partners, and automate management of results and follow up.

Counseling

Our board-certified genetic counselors are available on-demand for all Counsyl patients to ensure results are understood.

TEST DETAILS

About the Foresight Carrier Screen

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, 21-hydroxylase-deficient congenital adrenal hyperplasia (21-OH CAH)

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

 

Conditions covered

175+ serious inherited conditions

Who to screen

Men and women planning to start a family

When to screen

Before or during pregnancy

Sample type

4 mL blood, or saliva sample

Turnaround time

Results in 2 weeks on average

Methodology

Full-exon sequencing with panel-wide deletion calling

Download the Foresight Disease Book

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). Learn more about 21-OH CAH at cah.counsyl.com.

 

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.

Get started today

“The Foresight Carrier Screen gives you information that’s really important to the future of your family.”

References

  1. 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.
  2. Prior, Thomas W. 2008. “Carrier Screening for Spinal Muscular Atrophy.” Genetics in Medicine: Official Journal of the American College of Medical Genetics 10 (November). The American College of Medical Genetics: 840
  3. Committee Opinion No. 690 Summary: Carrier Screening in the Age of Genomic Medicine.” 2017. Obstetrics and Gynecology 129 (3): 595–96.
  4. Hogan et al. Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification. Clinical Chemistry 2018; doi:10.1373/clinchem.2018.286823
  5. Ghiossi, C.E., Goldberg, J.D., Haque, I.S. et al. J Genet Counsel (2017). https://doi.org/10.1007/s10897-017-0160-1.
  6. Blythe SA, et al. Clin Biochem. 1984;17(5):277-283.
  7. Condit, et al. 2003. “Attitudinal Barriers to Delivery of Race-Targeted Pharmacogenomics among Informed Lay Persons.” Genetics in Medicine: (5): 385–92.
  8. Carrier Screening in the Age of Genomic Medicine. Committee Opinion 690. ACOG. Obstet Gynecol 2017;129:e35-40.
  9. 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.
  10. 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.
  11. 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.
  12. Cystic Fibrosis Foundation Patient registry 2012 annual data report. Bethesda, Maryland. ©2013 Cystic Fibrosis Foundation