In today’s era where the diseases are spreading worldwide that are not even known to the scientist, many patients remained undiagnosed with genetic diseases, resulting from inferior genetic testing methods and insufficient testing. However, specific techniques like single gene testing, microarray, and panel testing can find the partial cause of the congenital disease. Still, these tests cannot find the proper and complete etiology. In contrast, the whole genome sequencing technique identifies almost all changes in the patient’s DNA, both the coded proteins and the non-coded ones.
TO WHOM GENOME SEQUENCING IS RECOMMENDED?
Genomic sequencing detects all the disease-causing genetic variation in the genes, where another test cannot and have their limitations. Now the next question which arises is for what people whole-genome sequencing is recommended. So, WGS is usually recommended to patients with heterogenic phenotype, unclear and atypical clinical syndromes, or those with a long list of previous vague tests and undiagnosable diseases. Or to those that have exhausted other genetic testing methods.
Furthermore, if we describe that for which this testing is, then we recommend whole-genome sequencing to: Genome Sequencing
- Those who have complex unspecific, and broad symptoms that are not giving any indication about any particular disease, for example: clinical or heterogeneity like intellectual, seizures, muscular disorders, dysplasia, cardiomyopathy, neuropathies, deafness and blindness.
- Patients with the disease with atypical phenotypes like polycystic kidney disease.
- Patients that are with a dual or blended diagnosis, for example, immunodeficiency and intellectual disability.
- People with suspected mitochondrial conditions like cardiomyopathy and muscular weakness.
- To the patients whose delay is diagnosis may threaten their lives, like patients who are severely ill and late diagnosis alter their medical management, such as children with seizures, hypotonic and deteriorating diseases like cancer.
The principle of genome sequencing can quickly provide the raw nucleotide of human sequencing DNA. However, further analysis can be performed to indicate the meaning of DNA sequencing in terms of biological and medical knowledge. This knowledge will help to prevent the disease.
As sequencing generates many data because there are approximately six billion different base pairs in every individual diploid genome, all the data is stored electronically on devices that a=have good capacity and supportive hardware.
It is essential to know the advantages and limitations of genome sequencing if you are planning to get this test done, so here are a few of the benefits:
- With the proper medical implications, you are getting scientific results
- Your information is protected
- You are assured of the technical accuracy
- Your data will be recorded for lifetime use
- Cascade testing for other family members
- Getting accurate results and better diagnosis
- Psychological benefits
- Information is available for another family member for future need
- Sense of empowerment
- Staying away from non-genetic healthcare providers
As limitations are expected in any novel technology, and so it is in genome sequencing. What is more important here is to make the client aware of the restrictions before proceeding with further processing. The limitations of the process are:
- Structural variations
- Clinical validity should not be maintained
- The test may be failed
- Privacy can be hurt
- False results may have destructive psychological impacts
- Prenatal limitation
- Additional limitations to cancer samples
HOW IT WORKS:
If you have decided to go for whole-genome sequencing testing, you should check for the company and laboratory offering their best services out there. You can find them online too.
It works by:
- You have to order the appropriate testing for your patient
- The patient sample will be collected
- The patient’s sample is sent to the genetic laboratory
- In approximately eight to ten weeks, the results are sent to the physician of yours
- Now the physician or your advisor will talk to the patient
- If you have any further queries then contact details are given, you can easily communicate
So to conclude, it can be said that genome sequencing is the only test that can give complete genetic information of the coded and non-coded proteins of the human DNA and able to detect any abnormal change in the gene. But make sure not to compare or mix this technology with the DNA sequencing technique.