The purpose of clinical whole-genome sequencing (WGS) is to reveal the unique differences in base pair mutations and help physicians interpret how certain combinations of DNA impact an individual’s growth and survival. These patterns reveal inherited disorders, define the prognosis of an individual’s medical anomaly, and predict a patient’s genetic response to a drug. This helps a physician make the best recommendations for an individual’s treatment.
Benefits of Clinical Whole-Genome Sequencing
Reduced Risk of Disease
Through early detection, whole-genome sequencing can increase a patient’s chance of reducing or eliminating disease — or at least its negative effects. By using whole-genome sequencing to characterize the traits of a disease, physicians can advise patients (and the wider public) on how to limit their risk based on their genetic predispositions and lifestyle habits.
More Accurate Diagnoses
Base pair mutations and unique DNA combinations provide useful medical insights on how these genetic sequences affect a person’s development and well-being. This information can help a doctor predict how a patient will respond to a drug and allows them to provide better care accordingly. As such, clinical whole-genome sequencing ensures physicians and patients can have confidence in both the diagnosis and the treatment of their genetic disorders.
Examples of Clinical Applications
Whole-genome sequencing maps a patient’s entire set of genes, including their expression and regulation. With the ability to process such large sets of DNA in such a short time, the medical industry and patients have experienced a plethora of benefits.
Clinical whole-genome sequencing allows medical professionals to discover illness and disease risks that could not be identified by traditional medical approaches — sometimes even before a patient has displayed any symptoms. This approach to medical care has also yielded the following results:
- Faster diagnosis for newborn babies and children with a severe illness; as a result, some hospitals are looking to implement whole-genome sequencing processes in NICU centers in order to provide faster diagnoses for sick infants
- More accurate diagnoses for newborn babies and children who had previously been undiagnosed or repeatedly misdiagnosed
- Identification of differences in the mutational landscape of chronic lymphocytic leukemia
- Identification of abnormal chromosomes or genetic mutations in fetal DNA
- Faster and more affordable medical experiences for patients
- Creation of personalized treatment plans based on a patient’s DNA and how they will respond to treatments
- Identification of specific genes that contribute to disease and advancement of the healthcare system’s expertise on genetic variation
- Custom-tailored patient education on which lifestyle habits to moderate in order to counter genetic predisposition to disease
Clinical WGS Safety and Quality Assurance Measures
Genetic processes are not taken lightly in the healthcare industry. In fact, the Centers for Medicare & Medicaid Services (CMS) have imposed a number of regulations for human sample research called the Clinical Laboratory Improvement Amendments (CLIA). This program makes sure that quality standards are met during testing by requiring laboratories to meet the following conditions during their studies:
- Lab access is restricted to authorized personnel only
- CLIA technical processes are followed
- Data is protected on a secure on-site server
These regulations ensure that patient information is not only safe but also that the results are precise and accurate. With this strict, regular quality control, patients and physicians can have trust in their diagnoses and know that the laboratory in question is certified and the personnel meets CLIA standards.
Psomagen’s laboratory has been accredited by the College of American Pathologists (CAP). In order to receive CAP accreditation, a laboratory must demonstrate that it operates with the highest standards of quality, accuracy and consistency.
Areas for Enhanced Analysis
Medical science is far from understanding all the ways that clinical WGS can benefit modern healthcare. Research is still yearning to learn more about the specific genetics behind certain cancers and potential preventative measures. Psomagen is working around the clock to make these discoveries possible and to provide patients, hospitals, and universities around the world with life-changing WGS services.
Clinical WGS Services
At Psomagen, we offer an all-inclusive assessment of patient DNA in our CLIA-certified and CAP-accredited laboratory facilities using approved methods of WGS. We can test for undiagnosed or misdiagnosed disease or simply assist healthcare practitioners with the sequencing of a patient’s genetic data.
Team up with us in a mutual endeavor to improve global health through genomics studies. Contact us to learn more or to order tests.
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