Jeanette McCarthy, MPH, PhD
As genomic testing moves into the mainstream, there is an increased risk of lawsuits against healthcare providers. Medical malpractice claims could arise from the use, failure to use, or misuse of genomic information by healthcare providers. A recent review by Marchant and Lindor explored the risk of genomic malpractice. They summarize actual lawsuits over the years and outline potential areas for litigation moving forward.
According to the review, the number of lawsuits related to genetic testing has been relatively stable over time, with about 12 per year, despite increased use of these tests by healthcare providers. Yet, with >75,000 genetic testing products on the market and in a largely unregulated environment, the potential for growth in genomics malpractice cases is there.
The good news is that educating healthcare providers about the validity and proper use of genetic tests could mitigate the risk of genomic malpractice.
Potential areas of genomic malpractice
The vast majority of genomic malpractice cases to date have involved prenatal genetic testing. In more recent years as clinical applications have expanded, cases involving diagnostic, susceptibility and pharmacogenomic testing have emerged.
Marchant and Lindor outline several situations where genomic malpractice either has occurred or may occur in the future.
Failure to offer genetic screening despite indications that it was warranted
The failure to offer a test usually occurs because healthcare providers may be unaware of genetic tests currently available for early diagnosis and prevention of disease or are not up to date on recent genetic testing guidelines.
The following are some of the most important genetic tests supported by professional guidelines, and that all healthcare providers should be aware of: carrier testing for recessive genetic disorders; prenatal testing for chromosomal abnormalities; diagnostic/predisposition testing for hereditary cancers; pharmacogenomic testing for severe adverse drug reactions.
Failure to diagnose a genetic disorder in time to prevent an adverse outcome
This category is particularly relevant to rare genetic diseases in children. Newborn screening for a number of rare Mendelian (single gene) diseases that are serious, treatable and manifest in childhood is mandated. Yet, not all Mendelian diseases are part of newborn screening.
The ability to recognize when a child might have a genetic disease, and referring them to medical genetics professionals and/or genetic counselors is key.
Telltale signs of genetic disorders in children include a family history of a known inherited disorder, birth defects, mental retardation, or developmental delays. Typical genetic diagnosis involves gene panel or whole genome/exome sequencing.
Every provider should know how to locate a genetic counselor who can support test selection, return of results to patients and referrals to other genetics professionals.
Failure to appropriately interpret the results of genetic tests and explain the results fully to patients and their families
Interpretation of genetic test results is complicated by the nature of these tests. Rarely are the results of genetic testing deterministic. Instead, genetic test results are often expressed as a probability, or risk of disease. A result may indicate that, based on their genetics, the patient has a 25% risk of disease. They might be told they have a 25% increased risk of disease. These descriptions have two very different meanings and can both lead to confusion when the patient just wants to know whether they are going to get the disease or not. A physician who understands the nature of genetic associations can more easily interpret and explain these results to their patient.
Further complicating this is the uncertainty around whether specific genetic variants are indeed pathogenic or not. Indeterminate results like a variant of unknown significance (VUS) are not uncommon, especially for large gene panel tests. The meaning of a VUS is easily misunderstood and can be difficult to convey to patients.
Failure to return test results to patients
It’s not hard to imagine how this can happen, when test results are often sent to healthcare providers as PDF documents that are then scanned into the medical record. Misplaced or buried lab reports, ordering physicians who forget to follow-up or share results with other care providers and other logistical issues expose flaws in the current system of delivering genetic testing.
Integration of genetic test results into the electronic health record as structured data, and with clinical decision support is one way to address these issues. Several healthcare institutions, including Geisinger Health and Northshore University Health System, are at the forefront of developing infrastructure to integrate genetic data in the EHR for use in primary care.
However, even when the healthcare provider is alerted to genetic test results, they may fail to deliver the results to their patients. This can happen when the provider either doesn’t interpret the report correctly, or doesn’t appreciate the potential value of the results to their patient. For example, a likely pathogenic variant might be misinterpreted as an indeterminate result and the importance of the variant downplayed to their patient. Another example might be genetic test results that diagnose a hereditary form of the disease, but for which the treatment doesn’t change. Failure to deliver these results to the patient may not directly impact the patient’s health, but could have important implications for family members, including any children that patient might have.
Failure to properly treat a patient based on their genetics
Genetic testing can be used to prevent disease or adverse drug reactions, as well as to optimize the efficacy of treatments. For example, a patient with MODY, a hereditary form of diabetes, should be treated differently than someone with Type 2 diabetes, and yet many don’t know they have MODY and will be mistakenly diagnosed with Type 2 diabetes without a genetic test.
Another example is that certain drugs should be dosed differently depending on the patient’s genetic background, to improve efficacy and reduce side effects. Failure to offer pharmacogenetic testing in these cases, or ignoring the results of these tests when making treatment decisions could lead to litigation.
In both of these cases, knowing the telltale signs of a genetic disease, and being up to date on genetic testing guidelines can reduce the risk of genomic malpractice.
What healthcare providers should know
In order to reduce the risk of genomic malpractice claims in the future, healthcare providers should arm themselves with some basic genomic literacy. In addition, the following skills would allow them to maximize all of the benefits of genetic testing to improve patient care, while reducing the risks.
All healthcare providers should be able to:
Recognize when consultation with a genetic counselor or medical geneticist is warranted and know where to find one
Locate current genetic screening/testing guidelines
Distinguish clinically valid and useful genetic tests from those that are not
Interpret genetic test results correctly and explain the results and their implications clearly to their patients
Locate management guidelines for hereditary diseases
To improve your genomic literacy and learn valuable skills for implementing genetic testing into clinical practice, check out our online courses at precisionmedicineacademy.org.
Dr. McCarthy is the founder of Precision Medicine Advisors, which specializes in communicating precision medicine to lay professional audiences, providing scientifically sound, unbiased information to promote the responsible use of genomics in medicine.
Contact info: firstname.lastname@example.org