What is Genome -Scope ?
Genome-Scope is a breakthrough DNA-based test for newborns that uses next-generation sequencing technology to simultaneously analyse 4000+ genes related to both rare and common inherited disorders.
~80% of rare diseases have a genetic origin
1 in 3 babies admitted in Neonatal ICU has a genetic disease
Without genetic testing,it takes about 7.3 physicians and 4 years for the diagnosis of a rare disorder
All you need to know about Genome -Scope !
Genome -Scope is the best & most affordable genetic test to ensure your baby is free from a plethora of life-threatening childhood-onset disorders! Here’s what the test has to offer & the simple steps that you need to follow to sign up for it!
From Newborn Screening To Newborn Sequencing
Disorders Screened Biochemically
Genome-Scope tests for 4200+ genes related to 1000's of childhood-onset disorders
Requires Additional Testing
Genome-Scope uses next-generation sequencing technology to provide highly accurate & clinically relevant results
Genome-Scope provides a timely diagnosis as well as information on how & which medicines a child would respond to, therefore, having the potential to save costs & improve outcomes.
Genome -Scope : a well curated &
intricately designed test
Genome -Scope uses advanced next-generation sequencing technology to obtain sequencing data with >95% accuracy
Genome -Scope screens for 4200 genes related to childhood-onset disorders. In healthy newborns, it provides information for changes in 1200 genes related to childhood-onset diseases with >80% chances of manifestation. In sick children, Genome -Scope provides information on 3000 genes with 20-80% chances of development into disease.
Genome -Scope provides a timely diagnosis as well as information on how & which medicines a child would respond to, therefore, having the potential to save costs & improve outcomes.
How does Genome -Scope work?
Order From A Physician
DNA Sequencing & Analysis
Free Post-Test Counselling
Patient data privacy is very important to us. We assure you that your clinical data & DNA information will be securely stored. We will not use or share any details with a third party without your consent. Based on your request we shall even help in transfer or deletion of the data as applicable.
Make an intelligent life decision for your child with
Please note that Genome-Scope can only be ordered by a physician. They would also be the only person to receive your results and will pass them along to you. If you are unable to find a physician, contact us on 1800-266-5533 & we will organise one for you at no additional cost.
Frequently Asked Questions
What is Genetic Testing?
Genetic testing analyzes your genes, which are the instructions encoded in your DNA. Your genes help determine your hair and eye color, height, and other physical traits that make you who you are. Genetic testing looks forvariations in your genes that can lead to disease. Knowing your child's unique DNA can be a powerful tool to move towards early detection and intervention rather than waiting on symptoms.
What can genetic testing do for me?
Genetic testing can help identify and manage an existing hereditary condition, provide insight into unexplained symptoms, and gauge the risk of developing a condition that runs in your family.
Why should I go for LifeCell’s Genome-Scope test?
Newborns and children under 24 months presented with life-threatening conditions need a fast and precise diagnosis to ensure rapid and efficient further diagnostic and therapeutic initiation. By nature of being rare diseases,the symptoms caused by them can often look similar to more common conditions thereby, being overlooked or mistaken. Failure to diagnose them slows down the process of being able to access the most appropriate care and treatment,leading to complications or even death. Early diagnosis and faster meaningful treatment can save hospital costs and allows improved quality of life for the child.
What is the risk for the newborn baby to be diagnosed with these rare genetic disorders?
Here are some important statistics highlighting the importance of genetic testing for newborns: Without the power of genetic testing, it takes about 7.3 physicians and 4 years for the diagnosis of a rare disorder. 1 in 3 babiesadmitted in Neonatal ICU have a genetic disease. There are at least 7000 rare diseases identified till date. 75% of rare disorders affect children. 30% of babies with rare disease die before their first birthday. 80% ofrare diseases have a genetic origin.
Are there any recommendations from any Indian medical body for genetic testing of inherited diseases in newborn babies?
Yes! In September 2019, the Indian government inaugurated five new molecular diagnostics centres all over the country as part of the Unique Methods of Management and Treatment of Inherited Disorders (UMMID) program to tacklethe menace of genetic diseases in newborns. In India’s urban areas, congenital malformations and genetic disorders are the third most common cause of mortality in newborns. With a very large population and high birth rate,and consanguineous marriage favored in many communities, prevalence of genetic disorders is high in India. UMMID initiative aims to establish NIDAN (National Inherited Diseases Administration) kendras to provide counselling,prenatal testing and diagnosis, management, and multidisciplinary care in Government Hospitals wherein the influx of patients is more. In the UK, effective Nov 2019, the National Health Services (NHS) is beginning a schemeto test babies' DNA at birth to protect them from inherited diseases, starting with a pilot scheme of 20,000 children. Earlier in April 2019, US legislators have introduced a bill ‘Ending the Diagnostic Odyssey Act,’ toprovide genomic sequencing for certain undiagnosed children.
Why choose Genome-Scope?
Genome-Scope is a comprehensive NGS based diagnostic test that analyses over 4000 genes related to inherited disorders in newborns. The key benefits are: Early diagnosis and faster meaningful treatment can save hospital costsand allows improved quality of life for the child. Identification of drug sensitivities (pharmacogenomic information). Makes the genomic data available for future testing requirements. Helps couples with an earlier terminatedpregnancy for future reproductive planning. Trained Genetic Counselor support. Enables you to get the test results in 10 business days. Exhaustive coverage of over 4000 genes relevant to thousands of disorders. DNA sequencingdata with >95% accuracy.
What is Genome-Scope?
Genome-Scope is a breakthrough DNA-based test that uses next-generation sequencing (NGS) technology to simultaneously analyse 4000+ genes related to inherited disorders in newborns, many of which present within the first 28days of life. This allows early diagnosis and faster meaningful treatment thereby saving hospital costs and allowing improved quality of life for the baby, makes the genomic data available for future indications, pharmacogenomicinformation for guiding medicine usage and drug response and helps couples with an earlier terminated pregnancy for future reproductive planning.
Who should consider Genome-Scope test?
Genome-Scope is the perfect test for expectant parents planning to bank their newborn baby’s umbilical cord blood with LifeCell and who want to learn more about their newborn’s genetics. Through the analysis of over 4000 genesassociated with actionable, childhood-onset conditions, you will get insight into your child’s risk of developing one of these common conditions like heart condition, hearing loss, metabolic disorders, immunodeficiencies,etc. The test expedites the diagnostic journey for thousands of genetic disorders. It can also be helpful for couples who are currently pregnant or thinking about getting pregnant in the future, including those who havealready had a child.
Can you name a few of the most common diseases that can be potentially detected by this test?
Heart conditions like aortic aneurysms, arrhythmias, cardiomyopathies, hereditary childhood cancers like retinoblastoma, neurofibromatosis, endocrine neoplasia, sensorineural hearing loss, pulmonary hypertension, vision loss,SCID, bowel hypomotility / obstruction, seizures, hyperbilirubinemia, hypothyroidism, anemia, thrombocytopenia, inborn errors of metabolism, neonatal respiratory distress, skeletal dysplasia, dermatological disorders, thrombophilia,congenital liver disease and many more.
How does Genome-Scope differentiate from current newborn screening test?
The term newborn screening refers to screening newborns for treatable inherited conditions soon after birth. It is a biochemical screening test for approximately only 50 conditions. It requires additional confirmation via genetics,which may require extra sample, time and can cause interim anxiety. Also, missed diagnosis may lead to overall increased poorer outcomes. Genome-Scope on the other hand is a diagnostic test rather than a conventional screeningtest. The analysis of DNA offers us a broader view of diseases which may not be identifiable by blood biochemistry. It tests for over 4000 genes related to inherited newborn and early childhood disorders, and the resultsare with >95% accuracy using the NGS based advanced technology.
How does Genome-Scope work?
Kindly find below the step wise process:
- Prepare For Test:
- Pre-Test Counselling: An in-house Genetic Counselor will help document family history of genetic disorders, personal medical history and lifestyle factors; whilst also clarify test benefits and limitations. The Pre-Testcounselling summary shall be shared with the Client as well as their physician post completion of the pre-test counselling session.
- Order from a Physician: This test can only be ordered by a Physician. If you are unable to find out, LifeCell shall appoint one on your behalf at no additional cost to you.
- Obtain Sample:
- Cord Blood: No additional sample required for Client’s preserving their child’s cord blood stem cells with LifeCell.
- Heel Prick: Few drops of blood collected hygienically from the baby’s heel and spotted onto a filter card.
- Next-Generation Sequencing
- Collect Raw Data: Sequencing information of >4,000 genes will be available for analysis and reporting within a rapid turnaround time of 10 business days.
- b. Obtain Results: Your results will only be shared with the ordering Physician and made available to you online.
- c. Cloud Storage: Raw data is stored on a secure cloud environment for future use.
- Next Steps:
- Post-Test Counselling: Help you interpret the results and clarify any doubts.
- Future Re-Analysis: Based on change in the child’s clinical status or when new genomic information becomes available.
What kind of sample does the test require?
Sample for this test can be obtained from the umbilical cord blood or a simple prick on the baby’s heel.
Is the sample collection process safe?
Both the sample collection techniques pose no risk to either the mother or the baby.
What is Dried Blood Spot (DBS)?
DBS means a few drops of whole blood drawn hygienically by lancet from the heel of the child and collected on a specially manufactured absorbent filter paper and dried.
Who will collect the sample?
At the request of the Client and upon payment of applicable fees, LifeCell would arrange for a trained Phlebotomist for the collection of the Sample (as applicable) and/or a certified service provider for transport of the Sampleto LifeCell's Laboratory. Client is responsible for providing the UCB Collection Kit to the Caregiver or DBS Collection Kit to the Phlebotomist arranged by LifeCell and also have the ordering Physician duly filled up theforms included in the Collection Kit.
How do I schedule an appointment with a LifeCell Genetic Counselor?
Upon enrollment you will receive an order confirmation email with the details of your plan, pricing, billing/payment mode, etc. It will have a link to get started with your pre-test counselling process and to book your appointmentwith our genetic counselor.
When will I get the test results?
Upon successful sample collection and testing, your results will be shared with your physician in 10 business days.
How will I get the test results?
Your results will be given only to your consulting physician who will then share them with you.
Can LifeCell help me understand the genetic test results?
Yes! A certified genetic counsellor shall be available to talk to you throughout the process at no additional cost. A genetic counselor is a healthcare professional who has extensive training to help you understand how yourfamily and personal health history may increase your risk or your children’s risk. They will gather your information, interpret your test results, lay out all the options, treatments, and explain any risks besides answeringall your questions so you can make healthcare decisions that are right for you. They can help find peace of mind or reduce anxiety by providing the right information about the test results.We want you to be empowered byGenome- Scope not just left with more questions!
Do I have to pay additional fees for the genetic counselling session?
For all Clients who sign up for our Genome-Scope test, the pre- and post- genetic counselling service by qualified genetic counsellors will be absolutely free of cost.
What happens during the genetic counselling appointment session?
It’s important for the genetic counselor to have a complete picture of your family history. Before your appointment, try to gather as much information as possible from your family members and obtain any relevant medical records.For example, your and your partner’s ancestry and ethnic history Information about current and past pregnancies, medical and health history, including major illnesses, chronic conditions such as diabetes or heart disease,and medications, health history of blood relatives, including children, siblings, half-siblings and their children, parents, aunts, uncles, and grandparents. You should anticipate an informative and thoughtful conversationthat often lasts thirty minutes to an hour or longer.
What if my baby develops symptoms afterwards?
LifeCell shall offer a one time free of cost re-analysis within the initial two years from the date of birth of the Child, only on genes specific to symptoms of the associated disease. The results shall be shared within fivedays. LifeCell may require additional documentation, including clinical information, depending on the details of the Client’s requests.
What if I the baby develops the symptoms after the initial two years?
After the initial two years, if LifeCell has not deleted the Client's genomic sequencing data, Client may request re-analysis of Client’s genomic sequencing data for an additional fee of ₹4,000 (INR Four Thousand only).
How accurate and reliable are the test results?
Genome-Scope uses an advanced next-generation sequencing (NGS) technology to obtain DNA sequencing data with >95% accuracy.
How well can this test predict a certain disease?
Humans have ~20,000 genes with diverse functions. Genome-Scope collects data on ~4200 clinically relevant genes, but the reporting approach has been designed in such a manner to maximize benefit while minimizing uncertainty.Hence, we report changes in ~1200 genes in newborns which have strong evidence of role in disease development and >80% probability of manifestation into disease. For the remaining ~3000 genes, we report the changes inthese genes only in newborns with symptoms since these genes have moderate evidence of role in disease development and 20-80% probability of manifestation into disease.
How useful is the information to improve treatment or choices?
Genome-Scope identifies and reports on conditions where today either treatment exists that helps in early diagnosis and initiating prompt treatment thereby allowing the baby to have a better quality of life and lowering theoverall treatment costs. If the treatment for the disease currently does not exist the knowledge of this is still vital as it helps reduce the diagnostic odyssey for an ill child, guide the family in preparing for the careof an ill child, and aid in future reproductive planning.
What if the test results come positive?
A positive result may:
- identify a likely diagnosis of a genetic condition.
- identify a predisposition or an increased risk for developing a genetic disease in the future
- have implications for other family members
- identify medications or dosages that are not safe or effective for the child
A negative test results may be interpreted that the baby will not get any of these genetic conditions in future?
A negative result does not necessarily rule out a disorder. It must be interpreted that it:
- reduced but does not eliminate the possibility of a genetic condition.
- reduces but does not eliminate predisposition or risk of developing a genetic disease in future.
- does not remove the need for additional testing.
What is Pharmacogenomics?
Pharmacogenomics is the study of how genes affect a person’s response to drugs. This relatively new field combines pharmacology (the science of drugs) and genomics (the study of genes and their functions) to develop effective,safe medications and doses that will be tailored to a person’s genetic makeup. Many drugs that are currently available are “one size fits all,” but they don't work the same way for everyone. It can be difficult to predictwho will benefit from a medication, who will not respond at all, and who will experience negative side effects (called adverse drug reactions).Pharmacogenomics use your genetic map to figure out how you will respond toa medication or certain treatments, for example Warfarin (for prevention of heart attacks and strokes) and Citalopram (commonly used to treat depression).
Do I require a doctor’s prescription to order for this test?
Yes, you will require a doctor’s prescription. Whilst signing up for the test, we will ask you to provide doctor details. The prescription will be collected from you after the sample collection process.
What if I can’t get a doctor’s prescription?
If Client has not chosen it’s own Physician then LifeCell shall assign an independent Physician who will place the order on their behalf at no additional cost.
What is the cost of Genome-Scope test?
The fees for this test is INR 30,000/-
I find the Genome-Scope test very expensive.
Whilst it's more expensive initially, it has the potential to lower overall costs by immediately achieving a diagnosis and, thereby, help in avoiding unnecessary tests and treatments. Pre-symptomatic identification and personalizedmedication guidance can also lead to better outcomes.
What is the tenure of this Agreement between the Client and LifeCell?
The term of this Agreement shall be five years from the date of birth of the Child.
Is there any cancellation fees if the Client terminates the Agreement at any time prior to the Sample collection.
In such a scenario, all fees paid by the Client to LifeCell shall be refunded after deducting a cancellation fee of ₹5,000 (INR Five Thousand only).
Is there any cancellation fees if the Client terminates the Agreement at any time after the testing of the Sample?
After the testing of the sample, all fees paid by the Client to LifeCell are non-refundable.
What about the privacy of our confidential and sensitive data?
We, at LifeCell, take data privacy very seriously. We assure you that your data will not be used or shared with a third party without your explicit consent.
>How long will LifeCell store my test results?
LifeCell will store your baby’s genomic sequencing data for a period of 5 years after the test.
If I need a back-up of the entire test result, can I get it?
LifeCell will store your baby’s genomic sequencing data for a period of 5 years after the test. During this time, the Client may request a copy of their baby’s genomic sequencing data on a removable hard drive for a nominalfee of ₹2,000 (INR Two Thousand only).
Does LifeCell store the DNA sample for future testing purposes?
LifeCell shall retain the DNA isolated from the Sample, and the DNA remaining after testing for a minimum of two years after issuance of the final test result. However, we cannot make any claim that the preserved DNA will beavailable or that the DNA, if available, will be appropriate or guarantee results for future tests.
What if after obtaining the final test results, I want LifeCell to destroy my baby’s genetic information from its database?
Client may request LifeCell to delete the genomic sequencing data. However, once LifeCell deletes this data from its cloud storage, no copies will be kept for future recovery of the data. Deletion of Client's genomic sequencingdata is final and permanent. LifeCell strongly encourages the Client to request a copy of their genomic sequencing data before such request to destroy the data. LifeCell shall py or delete the genomic sequencing data withinfive days of such a confirmed request.
Will LifeCell use my baby’s genomic sequencing data for research purposes?
Only if the Client gives its written consent to us! The Client may give consent to allow the Child’s Sample to be used for medical research and/or education, as long as privacy is maintained. Refusal to permit the use of theSample for research will not affect the Client’s test results. LifeCell assures that it will not sell Client’s data to a third party. Client can withdraw their consent at any time by contacting LifeCell.