Carrier Screening Test for couples planning a baby

Carrier Screening Test for couples planning a baby

• 1.
  carrier screening test Provide thebest clarity and reassurance for couples planning a baby. a new life. well planned.
• 2.
  Claria From MedGenome MedGenome isdriven to enable clinicians to deliver the bes t outcomes to their patients. Our passion to deliver actionable insights to clinicians has resulted in the development of “Claria” - a suite of NGS (Next-Generation Sequencing) technology-bas ed solutions for reproductive testing. Claria offers the most accurate Non-Invasive Prenatal Screening Test (NIPT), the Genetic Carrier Screening Test and the Preimplantation Genetic Screening/Diagnosis (PGS/PGD). Additionally, Claria offers an absolutely free, on-demand pre and post-test genetic counselling to all your patients. Carrier Screening Test Preimplantation Genetic Screening Non-Invasive Prenatal Screening test
• 3.
  Autosomal Recessive DisordersX-linked Recessive Disorders Beta Thalassemia Duchenne Muscular Dystrophy Sickle Cell Anaemia Haemophilia A/B Cystic Fibrosis Hunter Syndrome Congenital Adrenal Hyperplasia Spinal Muscular Atrophy X-Lin ked Mental Retardation Over 1,000,000 babies born with genetic disorders each year 1 in 100 babies born with an inherited disease20% to 30% of all infant deaths are due to genetic disorders Why is the screening test critical in India? Carrier Screening Test When a couple is planning for a pregnancy, it’s important that they know all they can, about the wellness of their future family. With state- of-the-art technology, high detection rates and an unparalleled service model, the Claria Carrier Screening Test from MedGenome can help couples understand and plan better for the future. The Claria Carrier Screening Test is a comprehensive screening test that screens for genetic disorders and has the power to detect disease- causing mutations in over 200 0 genes. Claria is bas ed on the best in class NGS and MLPA technologies, and provides your patients with the most accurate and comprehensive information they need when they are preparing for their pregnancy. Over 50,000,000 people with single gene disorders Most Common Genetic Disorders in India
• 4.
  Autosomal Recessive Disorders X-LinkedRecessive Disorders AFFECTED UNAFFECTED CARRIER AFFECTED CHILD CARRIER CHILD CARRIER CHILD UNAFFECTED CHILD CARRIER FATHER CARRIER MOTHER AFFECTED UNAFFECTED CARRIER UNAFFECTED CHILD AFFECTED CHILD CHILD CARRIER CHILD UNAFFECTED FATHER CARRIER MOTHER UNAFFECTED If the mother is a carrier for a X-linked disorder • 50% chance of males to be affected • Females are unaffected If both parents are carriers • 25% chance of the baby being unaffected • 25% chance of the baby being affected • 50% chance of the baby being a carrier If one parent is affected and the other parent is a carrier • 50% chance of the baby being affected • 50% chance of the baby being a carrier If only one parent is a carrier • 50% chance of the baby being unaffected • 50% chance of the baby being a carrier
• 5.
  Why screen forinherited genetic conditions? # Bell CJ, et al. Carrier Testing For Severe Childhood Recessive Diseases by NGS. Sci Transl Med. 2011 Jan 12;3 (650:65ra4) * Blythe and Farrell. Advances in the Diagnosis and Management of Cystic Fibrosis. Clinical Biochemistry. 1984 • Each individual harbours an average of 2.8 known severe recessive mutations.# • Carriers are usually healthy or unaffected; but, they have a risk of passing on their genetic condition to their children. Traditionally, carrier screening has been offered to patients based on their ethnic background or family history. • However, more than 80% of babies born with inherited genetic diseases have no known family history.*
• 6.
  When should acouple get tested? A couple can get tested in the following situations: • Preconception- when the couple is planning for a baby • Prenatal Diagnosis (early pregnancy)-with history of previous child affected, for getting to know the status in present pregnancy • Before an IVF procedure • Before a Preimplantation Genetic Diagnosis (embryo selection) • Before the use of a donor sperm and/or oocyte Who should get tested? Carrier testing helps determine one’s carrier status, and is an important step of the family planning process. The Claria Carrier Screening Test is recommended for all couples planning for a pregnancy. However, the test is strongly recommended in the following cases: • Consanguineous marriage • Either partner is affected by a hereditary disorder • History of a genetic disorder in the family • History of multiple pregnancy losses • Couple from an ethnic group with a high carrier rate of certain genetic disorders • Congenital anomalies detected in children
• 7.
  How do wetest for these disorders? The Claria Carrier Screening Test is based on Next-Generation Sequencing (NGS) to detect disease-causing mutations in over 2000 genes which are responsible for the Autosomal Recessive and X-Linked Recessive genetic disorders. Next-Generation Sequencing is a best in class and superior technology to detect all common and rare disease-causing mutations while MLPA is used to detect SMN, DMD, CYP21A2). Our team of experts adhere to the recommendations of the American College of Medical Genetics and Genomics (ACMG). With three different panels available (Silver, Gold and Platinum), the Claria Carrier Screening test offers the option of selecting the version that is best suited to the couple or family. Representative diagram only SILVER-100GENES GOLD-500GENES PLATINUM-OVER2000GENES
• 8.
  Genotyping NGS Usage Usedby many companies for routine carrier screening Used by a few providers to comprehensively evaluate the gene Mutation detection Tests for a limited set of common mutations Tests for 5 to 10 times more pathogenic mutations, and detects all common and rare disease-causing mutations Accuracy Provides limited utility beyond Caucasian and Jewish ethnicities Delivers high accuracy across ethnicities Detection of new pathogenic mutations Fails Enables the discovery of rare and novel mutations in a pan-ethnic population Fails Low residual risk, regardless of ethnicity Next- Generation Sequencing vs Genotyping
• 9.
  Why trust theClaria Carrier Screening Test? The Claria Carrier Screening Test screens for genetic variations, and diseases that are The unique ‘Claria Carrier Screening Test’ is based on the Next-Generation Sequencing (NGS) technology and leverages the Indian population genetic variant database created by Sir Ganga Ram Hospital over the last twenty years. This has enabled MedGenome to develop a highly focused and cost-effective test to screen for diseases and genetic • Best in class accuracy and easily interpretable reporting • Detection of all known common and rare disease-causing mutations • multilinguistic genetic counsellors • Option of three customized screening panels covering over 2000 genes associated with AR/XLR disorders • State-of-the-art labs based out of India, to process all samples with immediate access to the status of the sample • Higher accuracy and low residual risk, regardless of ethnicity • Pan-India presence for easy sample collection • Turnaround time of just 28 days for Silver and Gold panels and 42 days for Platinum panel
• 10.
  2. Sample Blood sample collected. 3.Testing Samples are shipped to MedGenome and analyzed. 4. Reporting Results sent to physician in 5. Counselling Our genetic counsellor answer questions and provide additional resources.4-6 weeks. 1. TRF* Physician orders the test. The Test Process How can I offer this test to my patients? It’s very simple. To join our provider network, all you need to do is, SMS CLARIA to 56767 Dial 1800 - 1037590 [email protected] Our representative will get in touch with you within 24 hours to help you with the registration. You can start prescribing the test right away and help your patients gain clarity about their genetic health. Order now MedGenome Labs Pvt. Ltd. 3rd Floor, Narayana Netralaya Building, Narayana Health City, #258/A, Bommasandra, Hosur Road, Bangalore – 560099 Toll free no: 1800-1037590 | SMS ‘CLARIA’ to 56767 www.medgenomeclaria.com | [email protected]