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Newborns and children under 24 months presented with life-threatening conditions need a fast and precise diagnosis to ensure rapid and efficient 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 an improved quality of life for the child.
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 babies admitted in Neonatal ICU has a genetic disease. 75% of rare disorders affect children. 30% of babies with rare diseases die before their first birthday. 80% of rare diseases have a genetic origin.
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 tackle the 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 scheme to 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,’ to provide genome sequencing for certain undiagnosed children.
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.
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 screening test. 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 results are with >95% accuracy using the NGS based advanced technology.
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-Test counselling summary shall be shared with the Client as well as their physician post completion of the pre-test counselling session.
Sample for this test can be obtained from the umbilical cord blood, simple prick on the baby’s heel or even genomic DNA .
Both the sample collection techniques pose no risk to either the mother or the baby.
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.
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 sample to LifeCell 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 the forms included in the Collection Kit.
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 appointment with our genetic counselor.
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).
Genome-Scope uses an advanced next-generation sequencing (NGS) technology to obtain DNA sequencing data with >95% accuracy.
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 in these 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.
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.
After the testing of the sample, all fees paid by the Client to LifeCell are non-refundable.
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 the overall 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 care of an ill child, and aid in future reproductive planning.
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.
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
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 your family 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 answering all your questions, so you can make healthcare decisions that are right for your baby. 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 by Genome- Scope not just left with more questions!
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 conversation that often lasts thirty minutes to an hour or longer.
For all Clients who sign up for Genome-Scope test, the pre- and post- genetic counselling service by qualified genetic counsellors will be absolutely free of cost.
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 five days. LifeCell may require additional documentation, including clinical information, depending on the details of the Client’s requests.
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.
LifeCell will store your baby’s genomic sequencing data for a period of 5 years after the test.
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 nominal fee of ₹2,000 (INR Two Thousand only).
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 be available or that the DNA, if available, will be appropriate or guarantee results for future tests.
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 sequencing data 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 pay or delete the genomic sequencing data within five days of such a confirmed request.
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 the sample 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.