Advancing Access to Precision Medicine Act (HR 5062, 115th Congress)

The Policy

Synopsis

In response to the growing practicality of genetic and genomic testing, the Advancing Access to Precision Medicine Act of 2018 (HR 5062, 115th Congress) calls for the National Academy of Medicine — within the National Academies of Sciences, Engineering, and Medicine — to conduct a study on the use of genetic and genomic testing for healthcare applications. HR 5062 also includes measures that allow state Medicaid plans to improve access to whole genome sequencing for children with certain health concerns.

Had the Act become law, the Department of Health and Human Services (HHS) would have arranged for the National Academy of Medicine to:

  • Investigate how genetic and genomic testing can enhance preventative healthcare, contribute to precision medicine, diminish healthcare disparities, and improve health across the US;
  • Assess how the federal government can improve access to genetic and genomic testing by facilitating:
  • Expansion of insurance coverage;
  • Collection of evidence of clinical uses; and
  • Accessibility of genetic counselors, pathologists, and other relevant providers;
  • Determine how Medicare and Medicaid programs under titles XVII and XIX of the Social Security Act restrict the use of genetic and genomic testing;
  • Determine how the Centers for Medicare and Medicaid Services (CMS) decide coverage regarding the use of precision medicine to treat diseases;
  • Study how genetic and genomic testing may improve health outcomes for all populations in the US; and
  • Consult with members of the healthcare field, relevant government agencies, patients, and patient organizations.

The National Academy of Medicine will report the finding of this study to:

HR 5062 would also introduce a new section to Title XIX of the Social Security Act (42 U.S.C 1396 et seq) that allows for a state option to provide whole genome sequencing for eligible children as described below. States may apply for planning grants and develop state plan amendments that accomplish the following:

  • Provide medical assistance to children under 21 who have seen at least one specialist for a chronic or undiagnosed disease. The patient must be referred and/or admitted to a pediatric intensive care unit for a suspected pediatric onset genetic disease;
  • Provide medical assistance in the form of payments to healthcare providers for genomic sequencing. The plan will specify how to determine payments, and federal medical assistance will comprise 75% of the payments for the first eight fiscal year quarters;
  • Require participating hospitals to enact procedures for referrals to healthcare providers that can provide sequencing; and
  • Enact reporting guidelines including that:
  • Healthcare providers will report on measures for determining the quality of sequencing clinical services;
  • The state will report on how sequencing affects health disparities and how coverage under the plan might impede the use of testing; and
  • State reports will go to the CMS and the Health Resources and Service Administration.

Context

HR 5062 builds upon existing Congressional efforts to improve access to precision medicine, including the 21st Century Cures Act (SciPol brief available), which allocated funding and increased support for innovation and accessibility in healthcare.

As genetic and genomic technologies advance, it is becoming more practical to  use genetic information in healthcare. HR 5062 mirrors other governmental actions that recognize the growing potential to apply genetic and genomic information in precision medicine. For example, the Precision Medicine Initiative (SciPol brief available) introduced by the Obama Administration aimed to improve infrastructure for bolstering access to precision medicine.

The Science

Science Synopsis

Many medical treatment decisions are based on what typically works for the average patient. Precision medicine aims to improve treatment decisions by considering individual patients and their unique characteristics, including their genetics. For example, precision medicine can be used in the prevention and treatment of cancer by using genetic testing to assess the risk of certain cancers and evaluate treatment options.

To gather information about the DNA of a patient, healthcare providers can use genetic or genomic sequencing. One type of genetic sequencing, genetic testing, generally refers to the analysis of a defined region of an individual’s DNA. For example, a healthcare provider may sequence a single gene to check for variations in DNA known as mutations. Genetic testing is a growing component of modern medicine, and in recent years, researchers have developed the means to expand genetic information-gathering from single genes to the full set of genetic material in an individual. This full set of genetic material (i.e., the genome) of a person is roughly three billion letters of DNA. In the context of state amendment plans under HR 5062, “sequencing services” would involve the unbiased sequencing of these three billion DNA bases in a person’s genome. This type of sequencing is generally known as whole genome sequencing.

Since the completion of the Human Genome Project in 2003, researchers and healthcare providers have been able to access and study a nearly-complete human genome sequence. Now, after an individual’s genome is sequenced via whole genome sequencing, those sequences can be compared to both existing human genome data and potential genetic variations. This comparison can reveal genes that have medically relevant mutations.

Whole genome sequencing can be particularly beneficial when an individual has a genetic disease that might be caused by mutations in numerous distinct genes. The human genome contains approximately twenty thousand genes; narrowing down a suspected genetic disease to the causal mutation can be time-consuming and impractical. Rather than starting with a candidate gene and performing genetic testing, whole genome sequencing can allow healthcare providers to comprehensively learn from the entire genome. For example, at least fourteen different genes can cause Bardet-Biedl syndrome, which affects about 1 in 150,000 newborns in North America and Europe. Since symptoms cannot determine the mutation(s) causing this disease, genomic sequencing can aid clinicians in efficiently diagnosing an individual.

Genomic sequencing can aid in diagnosing, improving treatment decision-making, and helping determine how diseases are inherited. As explained by the National Library of Medicine Genetics Home Reference, genetic and genomic testing of family members can help healthcare providers understand an individual’s risk of developing a genetic disorder or passing on genetic mutations related to a genetic disorder, such as cystic fibrosis or Huntington’s disease. Precision medicine can also help treat these diseases. For example, researchers have shown that precision medicine may help treat Huntington’s disease by revealing the genetic variants that cause symptoms to arise earlier or later than average.

Relevant Experts

Lori Ann Orlando, MD MHS, is a Professor of Medicine at Duke University, where she also serves as the Associate Director of the Precision Medicine Program in the Center for Applied Genomics and Precision Medicine. Her research efforts focus on preventative care based on risk stratification, decision making in healthcare, and integrating clinical evidence with patient preferences.

“Currently the evidence in trials for genomic testing has shown clear value in specific use cases; however, the implementation of these use cases has been severely restricted by lack of reimbursement and access to relevant experts. This bill, if approved, would tackle these difficult topics that are beyond the reach of researchers and clinical care providers to address; and would finally allow us to consider the integration of precision medicine into care for our patients.”

Relevant Publications:

  • Orlando LA, Sperber NR, Voils CI, Nichols M, Myers RA, Wu RR, Rakhra-Burris T, Levy KD, Levy M, Pollin TI, Guan Y, Horowitz CR, Ramox M, Kimmel SE, Caitrin WM, Madden EB, Damschroder LJ. “Developing a Common Framework for Evaluating the Implementation of Genomic Medicine Interventions in Clinical Care: The IGNITE Network’s Common Measures Working Group.” Genetics in Medicine (2017). doi:10.1038/gim.2017.144
  • Sperber NR, Carpenter JS, Cavallari LH, Damschroder L, Cooper-DeHoff RM, Denny JC, Ginsburg GS, Guan Y, Horowitz CR, Levy KD, Levy MA, Madden EB, Matheny ME, Pollin TI, Pratt VM, Rosenman M, Voils CI, Weitzel K, Wilke RA, Wu RR, Orlando LA. “Challenges and Strategies for Implementing Genomic Services in Diverse Settings: Experiences from the Implementing GeNomics In PracTicE (IGNITE) Network.” BMC Genomics 10:35 (2017). doi:10.1186/s12920-017-0273-2 (selected by NHGRI Genomic Medicine Working Group as an advance in genomic medicine
  • Wu RR, Meyers RA, Himell TA, Hauser ER, Vorderstrasse A, Cho A, Ginsburg GS, Orlando LA. “Impact of genetic testing and family health history based risk counseling on behavior change and cognitive precursors for Type 2 Diabetes.” Journal of Genetic Counseling PMID: 27296809 (2016). doi:10.1007/s10897-016-9988-z

The Debate

Endorsements & Opposition

  • Personalized Medicine Coalition, Letter to Rep Eric Swalwell (D-CA-15), February 14, 2018: “Given that studies defining the levels of evidence necessary to establish clinical utility can sometimes be cost prohibitive, we believe that NAM’s report will be helpful in identifying ways to facilitate patient access to personalized medicine.”