Genomics, the study and mapping of genomes or complete sets of DNA, offers unique and emerging medical applications that are now accessible to providers. Using Next-generation sequencing (NGS), a single genomic test can be used to assess hundreds of genes, including multiple clinically relevant biomarkers that have either diagnostic, therapeutic, or prognostic significance.

HNL Lab Medicine is excited to showcase the expertise of our genetic testing division, HNL Genomics. Along with specialty testing for rare inherited diseases, HNL Genomics offers prenatal screening and genetic testing for disciplines such as cardiology and oncology.
 

Understanding the Role of Genomics in Advancing Lab Medicine

Understanding genetic mutations driving tumors or hematologic malignancies is critical for providing the best care. Comprehensive genomic profiling can be used for early cancer screening and treatment response monitoring . This testing also identifies mutations, or variants, in a patient’s DNA that are strongly associated with specific disease. Because determining the presence of variants is not sufficient on its own, each variant is carefully evaluated for its effect on the gene and the product, or protein, it produces.

Variants can be used to identify clinical effects like response to certain drugs. Our NGS Myeloid Panel, for instance, detects variants in 40 key DNA target genes and 29 driver fusion genes. Using a comprehensive oncology knowledgebase, variants are linked to relevant FDA approved therapy options, disease guidelines, and global clinical trials.

  

The Benefits of Genomics for Lab Medicine

Because the information generated from genomic testing is being used to build cancer databases, there is accumulating evidence linking genomic variants with responses to specific drugs or therapies that is associated with favorable clinical outcomes. Cancers with high tumor mutation burden (TMB) respond well to immunotherapy and ovarian cancers with certain BRCA1/BRCA2 genomic variants respond well to PARP inhibitors.

In some cancers, like lung cancer, genomic variants called resistance mutations are associated with resistance to commonly used targeted therapies. HNL Genomics is in the process of validating an expanded NGS solid tumor panel to provide your patients with critical and time sensitive results, including TMB.
 

The Impact of Genomics on Rare Disease Diagnosis and Treatment

Along with identification of new therapeutic targets, drug development, and the design of clinical trials, cancer databases are being used to develop more sensitive genomic assays. Since comprehensive genomic profiling is becoming routine in cancer care, there is new information about the key genomic drivers of cancer development and progression across different cancer types.


Data from different genomic studies is analyzed collectively to identify common, as well as unique, genomic signatures in the tumors of different individuals. This provides a comprehensive overview of cancer development and the impact of an individual’s genome on its progression.

Using this data minimizes the risk of beginning ineffective treatments and advances precision medicine by selecting appropriate targeted therapies for patients according to the genomes of their tumors. It may also match patients with available clinical trials without wasting time on ineffective treatments.
 
How Genomics is Changing the Face of Lab Medicine

In addition to oncological applications, genomics is fundamentally changing prenatal testing by allowing certain genetic conditions to be screened for in pregnancy. Because fetal DNA from the placenta enters the mother's bloodstream during pregnancy, a single blood draw can be used for noninvasive prenatal screening (NIPS) in both high and low risk patients. These samples are screened for common whole chromosome aneuploidies (of chromosomes 21, 18, 13, with optional X and Y) providing information about the risk for conditions like Down Syndrome.

It can also indicate the fetal sex as early as 10 weeks gestation. In most cases, invasive testing can be avoided for patients with normal results. If a high-risk NIPS result is returned, invasive diagnostic testing can then be pursued. This testing will be available through HNL Genomics later this year.
 

Analyzing the Impact of Genomics in Lab Medicine

HNL Genomics offers prenatal and postnatal genetic testing for hundreds of genetic conditions. Some commonly ordered prenatal tests include gene panels for skeletal dysplasias, Noonan syndrome, and cleft lip and palate. Identifying a genetic abnormality prenatally can guide medical decisions during pregnancy. HNL Genomics also offers testing for genetic conditions such as Ehlers-Danlos syndrome, Marfan syndrome, and CADASIL, as well as known familial mutation testing.

These tests are often ordered when there is a high degree of suspicion for a certain genetic condition, or if there is a known genetic mutation in a family member. Unlike competitors, many tests through HNL Genomics, like carrier screening, deliver reports directly to Epic, making them a convenient and easily accessible option for both patients and providers.
 

The Emerging Applications of Genomic Gesting

Genetic testing is also useful for patients with personal or family histories of cardiovascular conditions. Family members of these patients may be proactively tested, thereby providing increased monitoring and lifestyle changes that help reduce the risk of cardiovascular disease.

Without genetic testing, these changes may not occur, or may not occur as quickly as is necessary to reduce the risk of disease. Identifying genetic causes of these conditions may also inform treatment. For example, certain genetic variants in the PCSK9 gene that cause familial hypercholesterolemia have approved drug treatments.

 

Utilizing Genomics to Enhance Lab Medicine Practices

As some cardiovascular conditions have reduced penetrance and variable expressivity, not everyone with a disease-causing genetic variant will express the same condition in the same manner. In some individuals, a cardiovascular condition may go undetected until they have an emergent event. In patients with a family history of cardiovascular disease, especially those with a known familial variant, genetic testing can identify predisposition to disease.

This enables providers to monitor high risk patients before the disease develops. HNL Genomics offers several genetic tests for cardiovascular conditions including familial hypercholesterolemia, familial thoracic aortic aneurysms, and cardiac channelopathies, and plans to add more relevant cardiac testing in the future. Future tests could include all types of cardiomyopathies and a sudden cardiac death panel.

 

Looking Ahead: What the Future of Lab Medicine Holds with HNL Genomics

Whether patients require testing for rare inherited diseases, cardiovascular conditions, cancer diagnosis or treatment, or prenatal screening, HNL Genomics has convenient and innovative options for providers, including an on-staff genetic counselor.

Tests not accessible through Epic can be ordered through HNL Genomics using a paper requisition form. It is no longer necessary for patients to obtain outside referrals and experience long wait times. Providers can now conveniently and efficiently order genetic testing and obtain consultations through HNL Genomics. If you'd like to learn more, contact us at 877-402-4221.