The Mount Sinai Hospital of New York City has a respected and established Genetics and Genomic Sciences department. The cancer genetics area of the department counsels patients before and after they choose to undergo genetic testing. The industry of genetic testing has expanded rapidly in the past ten years as science continues to identify specific gene mutations and their impact on individuals’ health risks. It has become more common for healthy adults to undergo genetic testing as a measure to predict cancer development based on the statistics and data related to known genetic factors. Genetic mutations can have harmful, positive, or neutral implications for a person’s risk profile. Ten years ago there were seven “significant” gene mutations that were understood and could be tested for. Today there are hundreds. Regardless of your genetic mix, there is no way to change your genes and the predictions for illness are only based on percentages in the data. There is no formula whereby an individual can know how their own health story will actually play out. Inherited mutations are believed to play a role in approximately 10% of all cancers. (National Cancer Institute, 2017)
Because you cannot change your genetic profile, the question is whether the knowledge of being “positive” for a negative gene mutation is beneficial to one’s physical and psychological health. In some cases, having the information can allow for preventive surgeries and screenings that may reduce or eliminate the risk for certain cancers. The knowledge also has the potential to reinforce healthy lifestyle choices for those wishing to mitigate genetic risk factors through environmental or habit changes. The genetic counselor’s job is to spend time with the patient before they have testing done to assist them in determining whether the knowledge of their genetic profile will lead to a positive, healthier life (in the case of a patient who is ready and willing to take action as a result of the diagnosis) or whether the information could simply increase stress around a condition if the patient is unable or unlikely to change their situation. The counselor must also be aware of his/her own biases throughout the process to avoid leading the patient’s choice. After genetic testing is complete the counselor meets again with the patient to discuss the results and work through next steps, if medical intervention is recommended.
As with the collection of other large data sets, the collection and analysis of genetic data brings with it unintended consequences. Issues of privacy, access, and discrimination exist in this domain. “Given enough data, intelligence and power, corporations and governments can connect dots in ways that only previously existed in science fiction.” (Howard, 2012) Privacy risks involved with cancer genetic testing include discrimination by insurance companies based on higher risk of illness and pre-mature death. In 2008 the Genetic Information Nondiscrimination Act (GINA) was passed to protect those who have had testing from discrimination by health insurance agencies and employers. However, the law does not cover disability, life, or long-term care insurance and those entities are increasingly likely to ask potential customers whether they or anyone in their family has had genetic testing that revealed a significant mutation. Our longevity metric could land in the mix of profit-loss equations for these big businesses.
Those who are not covered with good insurance and those in poverty are far less likely to be able to get genetic testing at all, which means this trend could perpetuate discrepancies in life expectancy of wealthy vs. poor patients. Patients who can afford the testing will have more information and may be better able to make informed choices to extend their personal health and health of their family members.
The chart below maps the procedure for counseling, testing, results, and follow-up care. It is perfectly fine to decide “Not to Know” about one’s potential genetic risk profile. What the counselor seeks to avoid, is to reveal a significant mutation without doing anything with that information to mitigate the risk. Knowing can be a burden and should be used as the power to changing outcomes.
In order to set up the 3-hour observation, I contacted Karen Brown, Director of the Mount Sinai Cancer Genetic Counseling Program. She directed me first to speak with Volunteer Services at the hospital to meet the basic requirements for observing in any capacity at Mount Sinai. I was sent an “Observer Form” which needed to be signed by the counselor who I would shadow. I also had to provide the following:
- Proof of HIPAA training. The Health Insurance Portability and Accountability Act is a law that applies to all healthcare industry professionals and their subcontractors and affiliates to create privacy protections around patient healthcare information (to which I would be exposed during my observation)
- Proof of medical clearance and toxicology screening
- Verification of credentials and qualifications (degree, letters of reference, CV)
- Flu shot
- Security photo ID (provided through the hospital)
My observation day was Friday, October 13, 2017.
First I sat with the front desk “intake” crew at the Cancer Genetics department. Calls come in at a steady pace from patients asking for genetic counseling. Most have been referred by doctors because they are exhibiting pre-cancerous symptoms at a younger-than-usual age. Others have been referred because a family member has tested positive for a known “significant” mutation and they want a diagnosis for themselves. Others call without a referral and are turned away to get a referral from their primary care doctor. If they have no clear medical reason for testing, they have the option to have testing due to “patient concern” and pay for the process out of pocket (they still must have a referral from a doctor to take this route). The cost is typically anywhere from $500 to $3000. Large insurance companies generally cover some or all of the costs for patients with family history of a known genetic mutation or if a parent or sibling has died of cancer under the age of 50 (a marker that genetics may have been at play).
Demographic information and medical history are collected over the phone after which the patient is directed to a website where they enter extensive family history information into a family tree template (specifically any history of cancer, cancer deaths, or pre-mature deaths due to illness that the patient is aware of).
Next I sat in with a cancer genetics counselor for a pre-testing appointment. I watched the interview process whereby a 42-year-old patient who has concerning symptoms learned about how the genetic test is done and what she may learn by submitting a DNA sample. The pre-cancer she has may be bad luck or it may be genetically inherited. The counselor goes through every person identified in the patient’s family tree and which relations died of cancer. All of this data will be entered into Mount Sinai’s database.
There is a specific panel of testing that the counselor highlights to this patient according to her symptoms. If the patient is found to have the suspected genetic mutation, the recommendation will be for her to undergo yearly screenings for several cancer types that she would then be known to have a high risk of getting. Surgeries may also be recommended to remove organs that are at high-risk. Many of the known significant mutations raise risk levels for more than one type of cancer. Anxiety understandably may increase with this extensive additional data. The patient is currently concerned about her stomach pre-cancer symptoms, but she may be recommended to have many more cancer screenings in the future if she is tested and the genetic result is positive. As more people have genetic testing more data is gathered to identify additional significant mutations and refine risk percentages for different conditions to which they are linked. The whole process ultimately leads to more data, more information, more screenings, more surgeries and these feed back into the system to create more data linked to each significant mutation. Logically it should reduce premature death rates. It also adds a lot of personal data into the healthcare industry and encourages many more surgeries and doctor visits going forward. The patients will hopefully live healthier and longer. The hospitals will generate more revenue as a result of the many added procedures.
The counselor walks this patient through the process while trying not to convince her of a particular direction. The woman has siblings and children and a positive diagnosis may have consequences for them as well. There are a couple of emotional moments and the patient fidgets nervously. She has a choice to “Not Know” or to possibly “Know.” If there is no genetic mutation identified in her cancer genetic test, she will need to continue looking for care answers with her primary doctor, but her family will not be directly at risk. She decides to move forward with the widest panel of testing because she believes she would rather know her complete cancer genetic profile. Consent forms are signed and the woman is brought down the hall for blood to be drawn. In four weeks she is scheduled to come back in for the results, at which point the next chapter of her care will begin.
Alexander Howard as quoted in 2012 in Digital Disconnect by Robert W. McChesney, 2013
National Cancer Institute, https://www.cancer.gov/about-cancer/causes-prevention/genetics/genetic-testing-fact-sheet, retrieved on October 12, 2017
Mount Sinai Department of Genetic and Genomic Sciences
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