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Did You Know?

Most people don’t have a known family history of genetic conditions and only learn that they’re carriers after having an affected child.

Counsyl ForesightTM, an Expanded Carrier Screen for Informed Family Planning

Foresight is a genetic screen for would-be and soon-to-be parents that can detect whether the parents unknowingly carry genetic-based conditions that may be passed to their children.

  • Useful for family planning
  • Recommended even if there is no family history of conditions
  • Physician-ordered
  • Carried out on one or both parents
  • Performed before or during pregnancy
  • Includes post-test genetic counselling
  • Blood or saliva sample required
  • Results made available to your physician within 3 weeks
  • Cost: $995 for first member of couple and $795 for the second (provincial healthcare insurance coverage may be available)

This test examines both X-Linked and autosomal recessive traits in one or, ideally, both of the parents. Based on a blood sample or cheek swab, the test estimates whether the recessive traits are likely to appear in your child.

Most of us are carriers of one or more genetic conditions that do not impact our everyday lives. This screening tool looks for over 175 conditions that, when taken together, affect 1 in 550 births.

  • 60% of individuals screen positive for one or more conditions on the Expanded Carrier Screen
  • 1 in 42 couples test positive for the same condition, with a 25% chance of having an affected child

Of the conditions covered by the Counsyl Expanded Carrier Screen:

  • 59 conditions improve with early intervention (e.g., Wilson disease and phenylketonuria)
  • 45 conditions carry a risk for intellectual disability (e.g., Fragile X syndrome and Niemann-Pick disease)
  • 78 conditions have limited or no treatment options (e.g., spinal muscular atrophy and Canavan disease)

It’s normal to be a carrier. However, if both members of a couple are carriers of the same recessive condition, they have a 25% chance, with each pregnancy, to have a child affected with that condition. Access to such valuable information before or early in pregnancy allows time to make better family planning choices.

Test Details

Genetic tests yield a wealth of information – some of it unexpected. Consult with your healthcare provider, speak with your family, and ensure you have access to the latest information before proceeding.

Test Purpose

Counsyl Foresight sequences full exons to identify carrier couples of all ethnicities for over 175 inherited conditions. The screen covers hundreds of diseases, such as Canavan disease, cystic fibrosis, Niemann-Pick disease, Tay Sachs, and Gaucher disease.

Foresight is useful in meeting the recommendations provided by at least two Canadian physician societies — the Society of Obstetricians and Gynaecologists of Canada (SOGC) and the Canadian College of Medical Geneticists (CCMG). In their article, An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing (August 2016), they provide several principles for carrier screening, which are summarized as follows:

1. Discuss the value and risk of reproductive carrier screening with all women/families considering a pregnancy (pre-conception) and with all pregnant women at their first prenatal visit.

2. Ask women, preferably preconception, about a family history or personal manifestations of health conditions

3. Refer those with a history of potential genetic/syndromic and chromosomal disorders, as well as congenital anomalies, intellectual disability, stillbirth, sudden death, and other major health concerns (cardiomyopathy, epilepsy, hearing loss, autism, and psychiatric disorders) to a reproductive genetic provider.

4. Offer genetic counselling to women/families identified as being at risk of transmission of an inherited condition.

5. When both reproductive partners are identified as carriers of the same autosomal recessive condition, promptly refer them for formal genetic counselling.

Test Candidates

  • Singles or couples who are planning to start or expand their families
  • People who live with a genetic disorder and are planning or experiencing a pregnancy
  • Individuals with family members who suffer from or have passed genetic diseases to their children
  • Individuals of ethnicities with higher incidences of specific genetic conditions (e.g., Tay Sachs disease in the Ashkenazi Jewish and French-Canadian populations)
  • People who are adopted or unaware of their family history
  • Individuals with a family history of consanguinity (or intra-familial relationships))

Test Timing

  • This Expanded Carrier Screen can be performed at any time prior to or during pregnancy
  • The test can be administered to one or both members of the couple, at the same or different times
  • Results are typically available within 2 or 3 weeks of receiving the blood or saliva sample at the Counsyl lab in California
  • Timing estimates do not include time required for physician appointments, requisitions, consent signatures, sample collection, statutory holidays, or courier/shipping times

Test Benefits

  • Provides important information for family planning
  • Helps with decision making and enables better preparation for the baby’s arrival
  • Flags conditions that could present in your child, whether or not they have been present in your families
  • Predicts the likely success of the pregnancy
  • Enables you to find a specialist or qualify you for further prenatal testing (e.g., amniocentesis)
  • If required, enables you to pursue in vitro fertilization, egg or sperm donation, or adoption with confidence
  • Combines 175 relevant separate DNA tests into one – minimizes the number of tests you need to take

Test Results and Reports

Reports are sent to healthcare providers, only. LifeLabs Genetics will not share results directly with patients. The ordering healthcare provider will receive an email or fax when results become available. Actual results are never shared via email.

The results will include the following:

  • A results summary, an estimate of reproductive risk, the affected gene(s), interpretation from a geneticist, a description of the detected potential disease (including prevalence, treatments, and prognoses), the methodology used (sequencing of exons relevant to the conditions tested), limitations of the screen, and suggested next steps. The couple report shows the risk of each person side-by-side for easy comparison.
  • Test results usually indicate a positive or negative result. Please note that it is very common to be a carrier of a genetic condition. Genetic counselling is highly recommended when you receive a positive result. Counsyl Foresight includes over-the-phone, pre- or post-test genetic counselling by a certified genetic counsellor who works for Counsyl. Genetic counsellors are available to help support both the healthcare provider and the patient.

This test does not identify your ancestry.

Test Forms, Options, and Ordering Details

Counsyl Foresight is ordered under the guidance of a healthcare provider only. Contact us if you need help or have questions.

There are two main options for this test:

Test Details Results Price
Counsyl Foresight Next-generation exon sequencing technology for the genes relevant to the 175+ genetic conditions tested Within 3 weeks $995
Partner Screening Test for the partner of a person who has already been tested or is undergoing testing; screens for 175+ genetic conditions in the partner’s DNA Within 3 weeks $795

Test FAQs

Will Counsyl Foresight definitively tell me whether I will have a healthy pregnancy and a healthy baby?

No genetic test can provide a 100% guarantee that you will have a healthy pregnancy and a healthy baby. Counsyl is a carrier screen for 175 different genetic conditions. The screen can identify over 99% of possible mutations in most of the genes screened but it does not rule out all possible conditions.

I’m planning multiple pregnancies. If Counsyl increases the number of conditions it can detect or changes the screen in other ways, will I be eligible to receive an updated report? For my next pregnancy, will I need to take the test again to take advantages of test enhancements?

Counsyl occasionally adds new, detectable conditions to the test protocol and additional detail to its reports. If Counsyl makes enhancements to the test during the gap(s) between pregnancies and you want to take advantage of those enhancements, you will have to pay for and take the test again. Neither Counsyl nor LifeLabs Genetics keeps your sample on file for future test reruns.

I’m already pregnant. Should my partner and I get tested at the same time?

With this expanded carrier screen, you and your partner have the option to take the test independently ( at different times) or at the same time. If you are already pregnant and believe that testing both partners will provide the information you need, we usually recommend that you take the test at the same time to allow you more time for planning, decision making, additional testing, and early intervention, if necessary.

I’m not sure this test is right for me. Can I speak with someone to confirm whether this test will give me the information I’m looking for?

Yes, please speak with your healthcare provider and/or contact us about your goals and situation. While the test covers 175 conditions, it does not examine or report on genetic variations that extend beyond those conditions. Further, while the test is widely applicable to the majority of the population, it is not appropriate in some pregnancy and conception scenarios. Speak with a professional to ensure you get your questions answered before proceeding with the test.

Test Details

This screening test is conducted and fully supported by Counsyl. Counsyl has published a comprehensive set of research materials and publications on the test at http://research.counsyl.com/

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