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GenomeScope— A Revolutionary Genetic Diagnostic Test

Genetic testing is a medical test that looks for changes in genes, proteins, and chromosomes. A genetic test is able to confirm or exclude a possible genetic condition. It can also help determine if a person is at risk of developing or passing such adisease to their next generation. There are more 77,000 genetic tests in use at the moment, with many others being developed.

Genetic testing looks for genetic changes in:

  • Genes: Genetic tests analyse DNA sequences to identify mutations (or variations) that may increase or decrease the risk of developing a genetic disorder. The scope of a such atest may be small or large and can analyse one DNA building block (nucleotide), several genes, or all of the person’s DNA, which is referred to as their genome.
  • Proteins: These biochemical genetic tests measure the amount or activity of proteins or enzymes. An abnormality in one can indicate a change in the DNA, which could lead to a genetic disorder.
  • Chromosomes: Chromosomal genetic tests analyse chromosomes to find out if there are any large genetic changes such as an extra copy a chromosome that might cause a genetic condition.

Genetic testing is optional. The decision to have genetic testing is a personal one. There are many benefits, as well as risks and limitations associated with such tests. A genetic counsellor or geneticist can offer information about the benefits and drawbacks of the test as well as discuss the social and emotional implications of testing.

About GenomeScope—

GenomeScope is a top genetic diagnostic test that evaluates newborns for thousands of disorders. And the resultshave a turnaround time of only 10 days. This makes it a valuable service for people who require urgent diagnosis, such as babies in the NICU.

Doctors have struggled to diagnose rare diseases with conventional diagnostic tools. Recent research has shown that rare disorders require more than seven physicians and can take up to four years to be diagnosed. The main causes of the long diagnostic journey for children with genetic diseases are misdiagnosis, hidden symptoms and lack of awareness.

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With more than 80% of these conditions being genetic in nature it is now possible to detect relevant causal mutations of nearly all of these conditions with a single test. This far surpasses the 50-condition range of new-born screening tests.

LifeCell launched this test under the nameGenomeScope. This revolutionary test uses next-gen DNA sequencing technology, which allows for the assessment of over 4000 genes associated with early childhood-onset disorders. The results are available in just 10 days. This test has the potential not only to speed up diagnostics but also to save lives. Even though not all conditions can be treated, parents may still want to have this information as it may help them prepare for their child’s future care and planning.

GenomeScope is also available to well-born children to detect predispositions for genetic conditions that could result in major harm if they are not caught early. It also gives information about how and which medications the child might show response to, which will in turn encourage the practice of personalized medicine. GenomeScope will be a useful tool for parents with a family history or who have had a child die from a genetic condition. Data suggests that as many as 80% of children born with genetic diseases have parents who are not affected by any such disease. This data underscores the importance and value of this test to all.

The sample for the test is taken from cord blood. The cord blood is taken right after birth and used to extract and preserve umbilical stem cells. You can also collect the blood by heel prick, which is a method of taking blood sample from the infant after birth. Within 10 business days, the results of the test are available to the physician. Lifecell has certified genetic counsellors who can assist with both pre and post-test counselling. LifeCell stores the raw data in order to allow future re-analysis in the event of changes in the clinical status.

What to keep in mind before opting for a genetic test?

Before you go for any genetic testing, make sure the test is valid. A genetic test is considered valid if it gives accurate results. The accuracy of genetic tests is measured in two ways: clinical validity or analytical validity. Another way to measure the quality of a test is its clinical utility or usefulness.

Analytical validity refers to the accuracy with which the test can predict the absence or presence of a particular gene. The test’s ability to accurately detect if a particular genetic variant exists or not is called analytical validity.

Clinical validity refers to the degree to which a genetic variant is linked to the risk or presence of a specific disease.

Clinical utility refers the extent to which the test can be used to diagnose, treat, manage, or prevent a disease.

All laboratories performing health-related tests, including genetic testing, must adhere to regulations by the government. Some countries may have stricter requirements. Such standards regulate how tests are done, the qualifications and testing procedures of each laboratory. These standards also help ensure the validity of genetic tests by controlling laboratory practices.

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