Alzheimer’s Disease: Risk Tests and the Medical Record

Easily administered tests that can assess one’s risk for developing late-onset Alzheimer’s disease (AD) are now available, and others are expected in the near future. These tests are likely to see increased use as advances are made in AD diagnosis, treatment, and prevention. However, these tests also present a new challenge to the medical community: how to deal with the choice by some, who have had AD risk testing conducted outside of the clinical setting, to not disclose to their health-care providers test results that indicate that they are at higher risk.

Examples of this nondisclosure of AD risk status come from two studies in which semi-structured interviews were conducted with individuals who had learned, through testing, that they had a higher risk for developing AD. In the first study [1], all 26 participants learned, from direct-to-consumer (DTC) genetic testing, that they had inherited one or two copies of the APOE ɛ4 gene, putting them at increased risk. They had sought genetic testing for a variety of reasons: to learn of their risk for AD, to shed light on a non-AD-related health concern, to obtain information about genealogy, or just for fun. No matter what their initial reason for testing, nearly half of those interviewed opted not to share this test result with their health-care providers. As a result, they were left on their own to interpret their test results and to figure out what steps, if any, they should take based on the test information. For this, they usually found themselves relying on sources that they found on the internet. Among those who decided to share the test information with their doctors, some did so only on the condition that their doctors not enter this information into their medical records. In the second study, Largent et al. [2] interviewed about 100 cognitively unimpaired individuals who were tested to see if they were at a higher AD risk— using either amyloid PET scans or APOE genetic tests— as a requirement for entrance into clinical trials. Most, about 75%, of these research participants indicated that they did not inform their health-care providers of their higher-risk result. While these numbers are too small to establish statistical significance, they are indicative of how often people decide not to share higher-risk results with their doctors.

Why this reluctance to reveal AD risk status? Those interviewed in both studies explained that they did not want this information in their medical record because they feared it might later be used against them: Insurance companies might try to deny them coverage. They also cited concerns about suffering discrimination in employment and in housing.

The desire to keep medical information private is understandable. Lingering memories of past misuse of genetic information [3, 4], along with occasional media reports of present-day misuse [5], continue to fuel concerns that genetic discrimination in the purchase of insurance, in the workplace, or when seeking housing, educational, or other opportunities could still occur. Though the Genetic Information Non-Discrimination Act of 2006 (GINA) provides health-insurance and workplace protections, it does not cover the long-term care insurance most needed and desired by those at a higher risk for AD [6], nor does it cover disability insurance or life insurance. Because of its sole focus on genetic information, GINA offers no protection for any of the non-genetic tests that reveal a higher AD risk. Even the protections that GINA does offer could be in jeopardy. In 2017 a bill was proposed, H.R. 1313 (115th Congress: Preserving Employee Wellness Programs Act) [7], that would have counteracted some of the workplace protections in GINA by allowing employer-run wellness programs to conduct genetic tests for health risks. Stiff financial penalties would be imposed on any employees who refused such tests. Though H.R. 1313 did not come up for full consideration when its companion bill— one intended to repeal and replace the Affordable Care Act (“Obamacare”)— failed by just one vote in the Senate, it does show how fragile the existing GINA legal protections are.

If patients do not disclose results from outside testing, health-care providers cannot provide the best recommendations, develop monitoring plans, or help their patients make truly informed decisions to further their wellbeing. The development of less-invasive tests that rely on blood-based biomarkers to assess AD risk intensifies the problem because it raises the possibility that, in addition to genetic tests, these biomarker tests may also become available through direct-to-consumer means [8]. This may lead to even more AD-risk testing being conducted outside of the medical community and, as a result, more test results being left out of the medical record.

The consequences extend beyond direct-to-consumer testing. Even if offered AD risk testing in the clinical setting, individuals concerned about discrimination may decide to decline. But, in so doing, they would be depriving themselves of future opportunities to benefit from therapies intended to delay or prevent AD, which will need to be started before any symptoms appear. When required in the research setting, the possibility that AD test data obtained in clinical trials could find their way into the medical record [9] may discourage participation. This could make it even more difficult to recruit the diverse population that is sorely needed to establish the validity and applicability of AD research results, especially among those of more limited means whose insurance coverage or employment situations can be unstable.

Some action in the short term could help remedy this situation. Educational pamphlets should be developed for distribution in doctors’ offices and other health-care settings, as well as online, to explain the value of sharing risk-test information with one’s care team when such information has been obtained from outside sources. Consent documents in research studies should include a statement about this as well. All of these materials need to point out that there are circumstances in which risk information would have to be revealed, whether or not it is contained in the medical record.

In addition to educational efforts, other remedies are required. GINA needs to be amended. Its workplace protections have to be reinforced so that employers, under the guise of improving the health of their workforce, are not able to impose tests for AD risk or, indeed, risk tests for other disorders. Ways need to be explored that will allow GINA protection for long-term care insurance. And new legislation is necessary to extend GINA-type protections to other forms of AD-risk testing. Fundamental to all of these efforts is the need for a review of current policies surrounding the storing, sharing, and sequestering of AD and other sensitive risk data in electronic medical record systems so that such information can be available, when needed, while still shielded from improper use.

The Advisory Group on Risk Evidence Education for Dementia (AGREEDementia) [10] is well positioned to provide guidance on creating the user-friendly educational materials being called for here. Given its membership, which joins professional expertise across multiple disciplines with the practical expertise of those facing AD in their personal lives, AGREEDementia could also begin the process of classifying and exploring the ethical, legal, and policy issues. Medical-advisory groups and patient-advocacy organizations could then build on that foundation. A concerted effort is needed to ensure that the medical record, the repository of health information, remains a key tool in the health-care arsenal.