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Myriad Foresight® Carrier Screen

Your Partner in Planning

Identify more couples at risk of passing down serious inherited, prevalent, and clinically-actionable conditions.

WHY MYRIAD FORESIGHT

Myriad Women’s Health pioneered expanded carrier screening and our Myriad Foresight Carrier Screen is systematically designed to maximize the detection of at-risk couples for a pregnancy affected by inherited conditions. We offer seamless support and services to make it easy to integrate genetic screening into your practice.

This means more of your patients will benefit from valuable information that can make a difference in health outcomes for families.

A PANEL WITH A PURPOSE

The goal of carrier screening is to detect couples who are at risk of passing down serious inherited conditions. That's why we've designed the Foresight Carrier Screen to maximize detection rates for the diseases that matter the most.

Unmatched at-risk couple detection

Have the utmost confidence you aren’t missing couples at risk with the highest published at-risk couple detection rate for serious inherited conditions (1 in 22 couples)1

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.

Seamless Patient Care with Myriad CompleteTM

Whether its automated results reporting and tracking, merged reports for couples, or on-demand patient education, our solutions are designed to help the patient through the screening process.

PRIORITIZING CLINICAL SIGNIFICANCE IN PANEL DESIGN

Our experts evaluated >650 genes based on strict criteria in an effort to produce not simply more, but meaningful clinical information. Thus, we selected 176 genes for the Foresight Carrier Screen.

Severity

Is this condition mild? Or is it serious (moderate, severe or profound)?3

Actionability

Is this information helpful to patients?

Prevalence

Is this condition common enough to be of value?

Sensitivity

With the best technology available, how well can we identify carriers?

Flexible Panel Choices for Personalized Care

Universal carrier screening for cystic fibrosis and spinal muscular atrophy is recommended by American College of Medical Genetics (ACMG) and American College of Obstetricians and Gynecologists. (ACOG).4,5

30% more pregnancies affected with cystic fibrosis* can be identified using Myriad Women’s Health’s testing methodology.
*when compared to a traditional 23 mutation panel

Fundamental Panel

Cystic fibrosis and spinal muscular atrophy

 

Fundamental Plus Panel

Guidelines-focused set of 14 genes

 

Universal Panel

176 genes associated with serious and prevalent inherited conditions

Incidence of affected pregnancies

Approximately 1 in 300 pregnancies are affected by a condition screened by the Myriad Foresight Carrier Screen1

  • Down Syndrome: 1 in 800 births9
  • Open Neural Tube Defects: 1 in 1,000 births10
  • Cystic Fibrosis: 1 in 3,500 births11

About the Foresight Carrier Screen

The Myriad 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 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

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.

FORESIGHT TEST DETAILS

Conditions Covered

176 genes associated with serious and prevalent inherited conditions

Who to screen

Men and women planning to start a family

When to screen

Before or during pregnancy

Sample type

4mL blood, or saliva sample

Turnaround time

Results in 2 weeks on average

Methodology

Full-exon sequencing with panel-wide deletion calling

Supporting Services with
Myriad CompleteTM

Myriad offers the following through Myriad Complete to help seamlessly integrate testing and screening into your practice.

Education

We provide resources to help you educate your patients about Myriad products.

Access

We offer a comprehensive program to make genetic products accessible for more of your patients.

Results

We deliver screening and testing results effectively and thoroughly so you can focus on care plans.

Consults

We provide consults with our Patient Educators, who are genetic counselors, and are available to answer any questions your patients may have.

Together, with Myriad Women's Health

  1. 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
  2. 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.
  3. 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.
  4. 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
  5. Committee Opinion No. 690 Summary: Carrier Screening in the Age of Genomic Medicine.” 2017. Obstetrics and Gynecology 129 (3): 595–96.
  6. Johansen Taber KA et al., Genet Med 2018; https://doi.org/10.1038/s41436-018-0321-0
  7. Global Genes, www.globalgenes.org
  8. Condit, et al. 2003. “Attitudinal Barriers to Delivery of Race-Targeted Pharmacogenomics among Informed Lay Persons.” Genetics in Medicine: (5): 385–92.
  9. 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.
  10. 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.
  11. Cystic Fibrosis Foundation Patient registry 2012 annual data report. Bethesda, Maryland. ©2013 Cystic Fibrosis Foundation