researcher drawing out genetic linkage

Clinical Whole Exome Sequencing

What is Whole Exome Sequencing?

If you’re trying to find a cause for your patients’ symptoms, clinical whole exome sequencing (WES) can reveal the origins of a genetic trait or illness. How does it work?

An exon, or “expressed region,” is the coding part of DNA and ultimately gets translated to protein. Using saliva, blood, or extracted DNA from the symptomatic patient and/or family member we can examine the patient’s proteins.  We are then able to identify exome abnormalities such as deletions, insertions, rearrangements, and more.

A trio analysis involves sampling the DNA of a patient and their biological parents, who are often likely to carry the same genetic alterations. This will identify the condition’s inheritance patterns and risk of recurrence.

Psomagen uses exome sequencing in a clinical setting to understand the role of genetics in human disease. Call today to catch the disease in its earliest stages.

Why would my patient need Whole Exome Sequencing?

A patient’s DNA sequence can be compared against a “normal” sample or a reference genome to detect mutations. Results from whole exome sequencing may show whether a gene is atypical or incomplete, which could identify whether the patient is presenting or at risk of a genetic disorder.

With the variant data in your hands, it can also be analyzed using your patient’s past medical history to better understand the disease’s natural progression. This can determine the route of clinical care, or that of the family members. If the relatives provide comparison DNA, the probability for genetic disorders can also be determined.

WES can quickly, accurately inform of the next logical screening or procedure to fast-track the path to wellness. Contact Psomagen for a consultation.

Benefits of Whole Exome Sequencing

If you suspect that your patient has a genetic disorder, or you’ve consistently had inconclusive or negative results to diagnose the patients’ symptoms, whole exome sequencing analyzes the DNA at a molecular level so that you can target the affected area.

With a smaller data set, it’s faster and easier to identify the illness and medically manage the future of your patient. It’s also less expensive than whole genome sequencing. You and your patient can focus only on the genes most likely to be causing the symptoms. No more wasted time, money, and effort. Safe decisions can be made for your patients’ health and their current or future children.

Will my exome report affect the insurance rates of my patients?

The patient’s health insurance company has access to their medical records. The Genetic Information Nondiscrimination Act (GINA) prevents the insurance company from denying coverage based on the genetic test results. GINA also protects the patient from discrimination from their employers. The same is not true of life or long-term care insurance.

Most health insurance coverage does not include whole exome sequencing because it is a fairly new and expensive test. Ensure your patients talk with their insurance providers to understand the terms of their policy and will be able to make their payments.

Why should I use Psomagen for Whole Exome Sequencing?

What makes our sequencing services different? We’re Clinical Laboratory Improvement Amendments (CLIA) certified and accredited by The College of American Pathologists (CAP), which means quality assurance of all workflow and equipment is tightly controlled from sample reception to release of data. All testing personnel are constantly evaluated based on Federal guidelines. Only authorized personnel can access the confidential personal data of patients. The de-identified samples and sequencing data is also stored for two years in case further sequencing or analysis is required in the future.

Psomagen Inc. offers a complete solution for variant discovery using exome sequencing with next-generation sequencing platforms.