I treated a 42-year-old woman with metastatic ovarian cancer. She chose not to reveal it to anyone, including her family. Should her 26-year-old younger sister have been informed, given she might have had a higher risk for the disease and could perform genetic screening? Would she have wanted to know? How should she have been told?
It has been more than two decades since the first draft of the human genome project was published, ushering in the personalized medicine era, which is only just beginning. And yet, as scientists make significant headway in genomic research, the bioethical and psychosocial aspects lag, without clear international guidelines on how to deliver genetic information, and at what age.
Genetic analysis is already applied on a day-to-day basis in certain medical domains (such as oncology, where genetic testing for predisposition to certain cancers is routinely performed), and its rapid development will render it essential to more medical fields. Tailored diagnosis and genomic-specific treatments will become the new norm, or gold standard.
As testing technologies develop and costs drop, genetic testing is breaking away from clinics’ walls, in direct-to-consumer companies such as 23andMe. A 2022 YouGov survey suggested that more than one in five Americans have already taken a genetic test and 50% would take one if it were free.
Alongside its great promise, increased access to genetic data raises complexities that cannot be left in void, limited to bioethical papers and conferences. This evolving issue should be widely discussed in a holistic way, respecting diversity of ethical, spiritual, legal and medical views.
What could be a comprehensive, yet accessible set of metrics for such a discussion? Let me suggest a five W-question guideline.
What Genetic Information Should Be Disclosed?
On one end of the spectrum, the liberal approach supports granting access to one’s entire genetic findings, unfiltered, unscreened. Advocates of this approach claim that physicians, for example, should inform patients of actionable genes (genetic information from which a concrete medical recommendation for preventive or therapeutic measures are derived), non-actionable genes (such as a high risk for a disease for which there is not treatment or cure) and variants of unknown or uncertain significance, meaning it is unclear whether they are connected to a health condition now—or in the future.
An example for an actionable gene would be a mutated BRCA1 or BRCA2, increasing one’s risk for developing breast cancer. If detected, the carrier can take action, from frequent screening tests and up to bilateral prophylactic mastectomy. Nonetheless, the reality is much more complicated, and “actionable genes” are in fact a dynamic concept, as medical discoveries in this field are constantly evolving; a variant of unknown significance today could become an actionable gene tomorrow.
Who holds the responsibility of keeping an individual up to date on the current implications of their genetic testing? Their family physician? The health organization? The private vendor that analyzed the data if performed in a direct-to-consumer service? Or should individuals somehow actively and constantly seek insight?
A conservative approach emphasizes the potential harmful consequences of knowing one is a carrier of a disease, though some studies, like this 2008 metanalysis published in the official journal of the American College of Medical Genetics, suggest negative psychological implications like depression and anxiety are short-lived, as well as negative healthcare behavior (such as “giving up” one one’s health).
Where Should The Genetic Report Be Delivered?
The choice of setting is not trivial, nor is its current lack of regulation. Imagine going through a dozen emails on a Monday morning when a notification pops up, reading “your recent genetic testing indicates that you were found positive for a mutation in the BRCA1 gene, increasing your risk of breast cancer.” Sitting at your glass office on the 17th floor, you’re without your close support system or an accompanying physician.
The called-for extreme alternative, a professional genetic service, is not a feasible solution, as there is a global shortage of genetic specialists. With that, physicians who are non-geneticists lack the needed literacy in the field to provide adequate medical counseling, as has been consistently pointed out in previous research.
In fact, this will become a major healthcare issue in the near future, as well as potential source for inequality, as genetic data is expected to be integrated into the electronic health record. The primary care physician will not only be exposed to your medical history, previous procedures, laboratory exams and treatment, but to your genetic code.
The medical and academic community will need to take concrete steps to increase literacy among physicians, from the early stages of medical school syllabus to their specialty training.
When Should Genetic Information Be Disclosed?
In some countries, children as young as 12 are allowed to access their electronic medical records, whereas in others, 18 is the minimum age; such significant differences occur even in neighboring regions, as can be seen in this comparative analysis of Northern Europe.
Revealing a risk for a chronic and potentially debilitating disease to an adolescent or child could impact their mental well-being, especially if they choose to keep this from their parent (by getting a result online, for example), or rather have no adult to help through the process. The American Society of Human Genetics encourages parents to defer predictive or predispositional testing (revealing a tendency or a high risk) for adult-onset conditions, if no immediate intervention is needed, until children are mature enough to process the information and be involved in decision making.
The timing and conditions of disclosing genetic information also raises the question of informed consent. Should patients opt in to see their DNA results (for example, by signing a consent form when affiliating with a healthcare provider), thus preserving their right not-to-know (or their right to genetic ignorance, as referred to by Dr. Tuija Takala, of the University of Helsinki)? Or, alternatively, should they actively opt out if they do not want to see it? Is this a one-time choice? And how will the option of opting out change the interaction between a physician and their patient, if the former sees the results in the electronic medical record but is obliged to keep this from the patient?
Who Is Entitled To See The Results?
In countries where differential pricing of health insurance is dependent on one’s medical history, access to predictive genetic testing can be detrimental to those most in need. Insurance companies could potentially raise rates due to a “flag” or marker suggesting a higher risk for a future medical condition (with different levels of certainty) found in one’s genetic makeup. Divulging information is even more complex when “pure” medical consideration is at stake. For example, should private medical information, such as the existence of a familial mutation that increases one’s risk for cancer, be relayed to one’s family members—even without that person’s consent?
Why Did One Request The Genetic Test?
Lastly, do the circumstances matter? Will the answer to any of the previous four questions change if a genetic test was done out of curiosity through a direct-to-consumer service or through a healthcare provider? Is the physician responsible for the former? Can physicians base their medical recommendations on an uncertified saliva test sent to an address of an online provider? This seems implausible, non-regulatory, necessitating a repeated exam, leading to substantial financial burden yet unclear onto whom.
Genetic testing is becoming part of our reality, part of our accessible medical history. This is the time for doctors, ethical experts, policy makers and the public itself to effectively discuss these issues, in an urgent and implementation-focused way. The sooner, the better.
* For me, each cigarette bud is more than a trace, it’s a person I would like to get to know. Each of my stories includes an original artwork. Clicking on them will take you to their websites. I am grateful to the artists for sharing their work.
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