Counsyl Foresight Carrier Screen

 

WHAT IS THE FORESIGHT CARRIER SCREEN?

Parents are often taken by surprise when they have a child born with a life-threatening inherited genetic condition. These parents are usually healthy individuals who carry a faulty version of a critical gene that increases their risk of having children with a serious genetic disorder.

The medical community has long recognised that early detection can allow carrier couples to conceive healthy children, but there has never been a single comprehensive test for carrier status – until recently.

The Foresight Carrier Screen, as requested by your doctor, can help provide genetic information about dozens of serious, inherited, genetic conditions, such as:

  • Cystic Fibrosis – affecting the lungs and pancreas, requiring lifelong treatment or lung transplantation.
  • Alpha Thalassaemia (HBA1/HBA2)
  • Tay-Sachs Disease – a metabolic disorder that often causes death within the baby’s first few years.
  • Sickle Cell Anemia – affecting the blood’s ability to carry oxygen to all parts of the body.

WHO SHOULD BE SCREENED?

Medical societies in Australia, US and UK recommend that pregnant women, or anyone planning a pregnancy, should be provided with information about carrier screening. Genomic Diagnostics provides patients with two test options for carrier screening, basic and expanded carrier screening. For expanded carrier screening, Genomic Diagnostics have partnered with Counsyl to provide a comprehensive screening panel which screens for 175+ conditions which are important and independent of ethnic background. If getting results quickly is a priority, both partners can be screened simultaneously.

I DON’T HAVE A FAMILY HISTORY OF DISEASE.

Even without a family history of genetic disease, you can still be a carrier. When two people are carriers of the same disease, they can unknowingly have a child with life-long health issues. In fact, 4 out of 5 children born with a preventable genetic condition have no family history of that disease.

WHAT IS A CARRIER?

A carrier is someone who has one gene with a mutation and one gene that is unaffected. Carriers are typically symptom-free and do not know that they carry a mutation.

WHAT IS CARRIER SCREENING?

Think of it as an ultrasound for your DNA. Carrier screening is a way to see whether you carry certain gene mutations that do not affect you, but can affect your children. If both you and your partner are carriers of the same genetic disorder, your child has a significant chance of suffering from a serious genetic disease. The only way to know your carrier status is by testing for it.

Autosomal Recessive Inheritance

WHAT IS A RECESSIVE DISEASE?

Recessive diseases are caused by changes (called mutations) in both copies of a person’s genes. Every person has two copies of each gene, one inherited from each parent. A recessive disease occurs when both copies of the same gene have a mutation. Cystic fibrosis is an example of a recessive disease. Some of the diseases on the Foresight Carrier Screen have a different inheritance pattern – for example, when only the female needs to be a carrier to have a baby at risk. This is called X-linked inheritance. Fragile X Syndrome is a significant example of this.

WHAT IF I FIND OUT I AM A CARRIER?

It is important for you to know that you have options. When two parents are carriers of the same genetic disease, their children have a 1 in 4 (or 25%) chance of having that disease. For certain diseases, such as Fragile X Syndrome, only the mother needs to be a carrier for the child to have a high risk. Your medical professional is available to guide you through the various options to find out what is best for you. Knowing your carrier status before or early in your pregnancy gives you time to learn about the disorder and prepare.

WHAT IF I AM NOT A CARRIER?

Generally, no follow-up testing is suggested for the diseases screened. It is important to understand that no screen is able to identify every carrier of every disease. You should also know that while the Foresight Carrier Screen covers a lot of information, we cannot screen for all possible birth defects and genetic diseases. Speak to your healthcare provider if you have special concerns due to family history or other factors.

EARLY TESTING ALLOWS PREVENTION

The earlier you know your carrier status, the more options you have available. Many couples who are at high risk as both parents carry a mutation choose IVF with pre-implantation genetic diagnosis (PGD).

COMPLEMENTARY TO PRENATAL TESTING

It is advised to take the Foresight Carrier Screen before a pregnancy. The test differs from tests such as Nuchal Translucency Screening, Chorionic Villus Sampling and Amniocentesis that are performed during the pregnancy. Couples who are carriers may have further testing in pregnancy (prenatal diagnosis). Prenatal testing is a specialised type of testing that is most commonly used to diagnose chromosome problems such as Down Syndrome. Preconceptional and prenatal tests have complementary roles in ensuring a healthy pregnancy.

AT A GLANCE

  • 175+ diseases with one simple and cost-effective test.
  • Blood based collection at one of our Pathology Collection Centres.
  • Ordered by your doctor.
  • Latest Next Generation Sequencing technology.
  • Combined partner testing and reporting for men and women available for fastest return of results.
  • Includes local genetic counselling support. Call 1300 268 6795 if you have questions about counselling.

KNOW THE FACTS ABOUT GENETIC DISEASE

  • Inherited genetic disorders account for more than 10% of deaths in childhood.
  • Rare disorders, including diseases covered by the Foresight Carrier Screen, affect up to 3% of babies.
  • Each year many Australian couples are at risk of having a child with a preventable genetic disease.
  • Most children with a recessive genetic disorder are born to parents with no prior family history.

HOW CAN I GET SCREENED?

  • The Foresight Carrier Screen is requested by your doctor.
  • Results are available in 2 to 3 weeks from receipt of specimen in the Counsyl lab in California and are returned to your doctor.
  • The Foresight Carrier Screen is currently not covered by Medicare or private health insurance in Australia. You will need to pay for your test before your blood collection by calling 1800 822 999.
  • You will be given a receipt number that should be written on your request form in the receipt box.
  • Attend your nearest Pathology collection centre to have your sample collected.

Price per person tested is $879*.

GENETIC COUNSELLING

When considering the use of expanded carrier screening such as the Counsyl Foresight Carrier Screen it is important patients understand the implications and performance of the test (pre-test counselling), and if they are found to be carriers, what the implications are and what the result means (post-test counselling). Counsyl Australia will be providing a free service for both pre and post-test counselling from Australian based and qualified Genetic Counsellors. Access is through contacting Counsyl on 1300 268 6795. For post-test counselling, carrier patients will be contacted by Counsyl and a follow up letter will be provided by the requesting clinician.

FORESIGHT CARRIER SCREEN CAN DETECT 175+ HEALTH CONDITIONS

Beta Thalassemia • Cystic Fibrosis • Spinal Muscular Atrophy
Bloom Syndrome • Canavan Disease • Familial Dysautonomia
Gaucher Disease • Niemann-Pick Disease • Tay-Sachs Disease

ABCC8-Related Hyperinsulinism • Adrenoleukodystrophy
Alpha Thalassemia • Alpha-Mannosidosis • Argininosuccinic Aciduria
Ataxia With Vitamin E Deficiency • Bardet-Biedl Syndrome
Biotinidase Deficiency • Carnitine Palmitoyltransferase IA Deficiency
Carbamoylphosphate Synthetase Deficiency • Cartilage-Hair Hypoplasia
Cystinosis • DFNB 1 Nonsyndromic Hearing Loss and Deafness
Delta-Sarcoglycanopathy • Duchenne/Becker Muscular Dystrophy
Familial Mediterranean Fever • Fanconi Anemia • Galactosemia
Glutaric Acidemia • Glycogen Storage Diseases
Hereditary Fructose Intolerance • Hereditary Thymine-Uraciluria
Infantile Refusum Disease • Isovaleric Acidemia
Joubert Syndrome 2 • Krabbe Disease
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
Maple Syrup Urine Diseases • Megalencephalic Leukoencephalopathy
Medium Chain Acyl-CoA Dehydrogenase Deficiency
Metachromatic Leukodystrophy • Mucolipidosis IV
MYH-Associated Polyposis • Nemaline Myopathy
Neuronal Ceroid Lipofuscinosis • Ornithine Transcarbamylase Deficiency
Pendred Syndrome • Phenylalanine Hydroxylase Deficiency
Polycystic Kidney Disease • Primary Hyperoxaluria • Pycnodysostosis
Sickle Cell Disease • Smith-Lemli-Opitz Syndrome
Tyrosinemia • Usher Syndrome • Wilson Disease
X-Linked Juvenile Retinoschisis • Fragile X Syndrome

full list of diseases screened is available at
www.counsyl.com/diseases

Limitations: As with any medical diagnostic test, genetic screening is risk
reducing, rather than risk-eliminating. Results are based on probabilities,
and as such, cannot diagnose or predict all disease.

 

FOR ANY QUESTIONS, TALK TO OUR FRIENDLY CUSTOMER CARE TEAM

CALL 1800 822 999 between 9.00 am and 5.00 pm (EST)

OR EMAIL US AT

info@genomicdiagnostics.com.au

 

 

*Prices correct at July 2018 and are subject to change without notice.