The Doctor’s Advocate | Third Quarter 2021
Government Relations Report

Preparing for Genomic Medicine: Implications for Medical Practice and Public Policy

Elizabeth Y. Healy, Assistant Vice President, Government and Community Relations, The Doctors Company; Robert Nussbaum, MD, Chief Medical Officer, Chantelle Schenning, PhD, MHA, Head of Public Policy, and Kristine Ashcraft, BS, MBA, Head of Pharmacogenomics, Invitae Corporation

Genomic medicine uses comprehensive knowledge of an individual’s genetic makeup to guide prevention, management, and therapy. No longer “something in the future,” it is quickly becoming part of standard clinical care.

Patients of the same age, health status, weight, height, and ancestry have varying disease risk and progression and often respond differently to the same drug, dosage, or treatment. Although genetics is not the only factor in this variability, healthcare providers are increasingly expected to consider genetics when treating patients. Similar to BRCA1/2 gene testing, which is now part of the standard of care for many patients with breast cancer, the wide range of available genetic testing is likely to affect everything from cancer treatment to pharmacology.

Policymakers are also recognizing the importance of genomic medicine. For example, Medicare has expanded coverage for pharmacogenetic testing. The FDA and Clinical Pharmacogenetics Implementation Consortium both provide guidance on using medications with known pharmacogenetic effects, including those commonly prescribed for pain management, cardiovascular care, mental health, and oncology.

As genomic medicine becomes part of the standard of care, policymakers will further engage in efforts related to liability, practice standards, and reimbursements. If enacted, the federal Advancing Access to Precision Medicine Act would create a demonstration program to expand access to genetic testing in the pediatric population. Additionally, legislation to expand Medicare coverage beyond a hereditary test for someone diagnosed with cancer is expected to be introduced.¹

This type of legislation would help in identifying earlier those at risk by enabling Medicare to cover testing for individuals with a family history of hereditary cancer mutations or a suspicious personal/family history and adding services for those at higher risk (e.g., more frequent colonoscopies or risk-reducing surgeries). A number of federal bills also look to expand telehealth services and create reciprocity agreements of some healthcare professionals between states. This could significantly improve patient access to care— including access to healthcare workforces in short supply, such as medical geneticists and genetic counselors. On the state level, Louisiana recently signed a law requiring health plans to cover a broad range of genetic tests for cancer patients.

Common Scenarios for Genomic Medicine

Family History of Cancer: While speaking with a 24-year-old patient, a primary care physician learned that the patient lost his mother to breast cancer when she was only 42. The National Comprehensive Cancer Network® guidelines recommend that anyone (male or female) with a first- or second-degree relative diagnosed with breast cancer at age 45 or younger be referred for genetic counseling and testing. According to a recent publication discussing recommendations to reduce liability risk, “when genomic testing is indicated, the clinician should discuss this with the patient and offer a referral if the patient’s healthcare institution does not offer genomic tests.”² The patient was tested and found to have a BRCA1 mutation that increases risk for certain cancers. A personalized cancer risk management program was created that included screening to increase chances of early detection. He was counseled to encourage other close family members to be tested.

Guideline-based medical genetic decision making and referral initiation have proved to be remarkably useful in identifying patients and families whose health and future can be profoundly influenced by genetic testing.

Current Cancer Diagnosis: An oncologist diagnosed a 50-year-old female with advanced colorectal cancer after her first routine colonoscopy. Testing revealed that she had Lynch syndrome, a condition that increases the risk of developing colorectal and uterine cancers, especially at a younger age. If her genetics had been known earlier, preventive steps—including earlier monitoring—could have been taken. Her other family members were tested, and her cancer treatment was personalized based on the genetic information.

We are rapidly moving toward the day when all cancer patients will expect to be offered counseling and molecular DNA sequence testing. Specific treatment and outcomes for cancer patients are often influenced by study results. In addition, when a hereditary form of cancer is identified, family members have the opportunity to pursue earlier testing and more frequent screening.

Medications with Known Genetic Impact: During a stent placement pre-op appointment with a 66-year-old male of Chinese ancestry, the provider told the patient she would add clopidogrel (Plavix®) to his medication regimen after the procedure. The patient noted that he heard the State of Hawaii had recently won an $834 million lawsuit against the makers of Plavix for not revealing that nonwhite patients had higher risks of treatment failure due to genetic variability. His physician ordered pharmacogenomic testing that revealed Plavix was ineffective for him, so she prescribed an alternative. The testing also revealed that he would receive very little pain relief from the standard post-op medication, so another medication was selected.

Clinical decision support tools (CDST) can provide guidance on when testing is indicated and how to act on the information in the context of other factors that impact medication response. Many studies show improved outcomes with pharmacogenomic testing and CDST, including one that reduced rehospitalizations and emergency department visits by 52 percent and 42 percent, respectively, saving over $4,300 per patient.³ Prescribing without pharmacogenomic information continues to occur even though coverage for testing has been expanded.

Emerging Challenges

Genomic medicine can help improve patient outcomes and quality of care, optimize medications, and reduce cancer risk. As the use of genome science evolves to become the standard of care, it will have far-reaching implications for the medical profession, public policy, and the legal system.

We will continue to monitor this issue and report on developments. For more insights on federal and state legislation, visit our Legislative, Regulatory, and Judicial Advocacy page.

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