Genetics has the power to revolutionize every area of medicine. Take oncology. Genetic testing and evaluation can inform cancer diagnosis, preventive action, care plans, and more. Yet, healthcare systems move slowly. They can lag in adopting new treatments and diagnostic innovations. The oncology field has only scratched the surface of what’s possible with genetics. 

Fully integrating genomics into oncology will lead to higher-quality, precision care. 

At SequenceMD, our medical team believes oncogenomics is the future. In this blog, we’ll talk about how oncology uses genetics today and what we can change to realize the promise of oncogenomics. 

If you’re new to the topic, let’s first discuss genetic variants. While some variants are harmless, others increase your risk for cancer and other diseases. There are two oncology types to know: germline and somatic.

Germline variants are DNA changes that occur in sperm or egg cells. They pass from a parent to a child and will appear in every cell in your body. Somatic variants are DNA changes after birth and outside the sperm and egg cells. Parents do not pass on these variants to children. 

Current Use of Genetics in Oncology

In oncology, most genetic testing focuses on tumors. Commonly called biomarker tests, these tests look for somatic variants. The results can help doctors more effectively treat patients. 

On the other hand, germline testing is less frequent. It typically occurs when a physician suspects an inherited predisposition (a germline variant). Doctors choose patients for testing based on the most well-known risk factors and run a multi-gene panel test. 

These tests can successfully identify at-risk patients. However, the results offer limited details for individual treatment or health management plans. They also do not reveal other genetic conditions that may impact the patient.

Guidelines also recommend germline testing for anyone with certain types of cancer, including male breast cancer, ovarian cancer, pancreatic cancer, and metastatic prostate cancer. Testing can inform cancer treatment and alert family members of potential cancer risks. Unfortunately, not everyone follows this guideline, and germline testing rates are low for many cancer types.

By limiting genetic testing or skipping it altogether, providers and patients miss out on chances for personalized treatments and preventative care.

Recommended Blog: Learn the role genetics plays for cancer patients and their families.

Where We Could Do More Today

Healthcare teams can work with geneticists to drive clinical innovation and better outcomes for individuals and their families. One underutilized genetic tool is pharmacogenomic testing. These tests help tailor drug treatments to individual DNA profiles. 

Additionally, physicians can expand genetic testing to encompass cancerous and non-cancerous predispositions. This practice would supply additional insights for holistic treatment and health management. Broader testing could also screen for genetic conditions that may impact a patient’s existing or future children.

When a cancer patient has nonstandard risk factors, an unusual disease presentation, or other red flags for a genetic disorder, you may need more advanced diagnostics. Whole exome or genome sequencing can provide invaluable insights for these cases. A full DNA evaluation can also determine polygenic risk scores for various diseases. Because they consider multiple genetic markers, these scores offer a highly nuanced risk assessment. 

Recommended Blog: See how a genetic evaluation could help you take proactive action against cancer.

Our Vision for a Better Future: Oncogenomics

The promise of integrating genomics into oncology is vast, enabling more targeted and effective care for a great number of individuals. Achieving our vision for oncogenomics starts with four steps.

  • Integrated Long-Read Sequencing: Long-read DNA sequencing is a more thorough way to analyze DNA. Doing long-read DNA sequencing on both tumor samples (somatic testing) and non-cancer samples (germline testing) should be the norm for cancer patients. This practice will lead to better care. It will also give researchers the data they need to study the full spectrum of genetic variations and their interactions.
  • Novel Drug Discovery: Comparing long-read sequencing of patients’ tumors with their non-cancerous samples will help scientists discover new therapeutic targets and drugs.
  • Targeted Clinical Trials: Advanced sequencing techniques will pinpoint patients with relevant genetic variants for clinical trials.
  • Research into Molecular Mechanisms: Analyzing paired tumor-normal DNA will help researchers learn what methods cancers use for survival and resistance.

Interested in Genetic Testing? Let’s Talk. SequenceMD works with providers and patients. We use genetic testing and evaluation to help you find answers and improve outcomes. Contact us to start a conversation.