Our genetic heritage carries secrets that are difficult to process
In Season 8 of the iconic 2000’s medical comedy-drama series, Scrubs, Dan Stonewater checks his mother into Sacred Heart Hospital with signs of paranoia. It turns out that Mrs. Stonewater has a hereditary degenerative brain condition, Huntington’s disease. The main character, J.D., who became an attending physician during the seasons, suggested to him to take a genetic test to find out whether he had also inherited it. After being visibly torn, Dan decided against it. He reasoned that he didn’t want to live his life knowing something unavoidable. He said he might have it done in due time but that he just wanted to be free of that burden.
A disquieting piece of The New York Times recounts Katharine Moser’s story, who against the advice of her mother, took a genetic test at the age of to find out whether she inherited Huntington’s disease from her grandfather’s line. After she received the confirmatory results, she went through different stages of grief. Denial as in – nothing happened, she is still the same person as she was before. Rage as in – why her? Why is she who has to take the burden of this ugly disease with no cure?
She even accepted a job at a nursing home in Manhattan, where there is a unit devoted entirely to Huntington’s. She tried to process the news actively: participated in awareness-raising campaigns, events organized by the Huntington’s Disease Society of America, discussed the genetic markers with others at risk for the disease in online forums. After a while, Moser realized the results of the test became a part of her life, and she had been living her days formed by the notion that she has a limited amount of time until signs of the condition will show. But until then, she started to learn how to ride a unicycle.
Would you want to know what runs in your own family? Order a genetic test online!
Huntington’s disease is not the only condition whose risk you can detect by a genetic test, but it is one of those monogenic hereditary conditions, where modifications in a single gene can determine whether the person will develop the disease later in life. Similar diseases are for example thalassemia, sickle cell anemia, hemophilia, cystic fibrosis. With depression, dementia, Alzheimer’s disease, breast cancer or other illnesses on a long list of conditions, the likelihood of the disease increases with genetic inheritance, but environmental factors also play a role in their development.
With the appearance of direct-to-consumer genetic testing, getting to know your risks became simpler and more affordable. For a couple of hundred dollars, after a check swab sent back to the laboratories, you can find out what runs in your family and how much you are at risk of certain diseases. For example, Pathway Genomics screens patients for more than 120 recessive genetic disorders and offers a comprehensive preconception and prenatal package. 23andme tests consumers for instance for cystic fibrosis, sickle cell anemia, hereditary hearing loss. Progenity’s regular preparental screening includes 29 disorders which may cause serious health effects in the future child. The Medical Futurist already tested Pathway Genomics to get a comprehensive overview of genetic heritage.
For centuries, there was no way to know
The option of having a genetic test for health risks has been around only for the last couple of decades, not to speak about DTC testing. The possibility to order a test online and to get your genes sequenced in a couple of weeks has only been an option since 2008. For centuries, the only data in the possession of both the doctor and the patient were the symptoms. Coughs, rashes, seizures, fever, blood, urine. As modern medicine progressed, the diagnostic procedures, sample analytics, as well as treatments became more complicated.
Interestingly, as time passed, patients also became more involved in their care. In the middle ages, no one went back to the doctor to be advised about vitamins or pain medication for a headache. The idea that patients have to deal with their treatment – how to be medicated, when to swallow pills, what to eat or not to eat – was only born some decades after the rise of modern medicine. Moreover, the idea of self-care as a way for patients to treat themselves and exercise healthy habits, most often under the guidance of a health professional was confined to mentally ill or older adults before the late 1960s or early 1970s.
Currently, with the advancement of digital health, the appearance of wearables, portable diagnostic devices, everyone gets information which was not possible before. The types of medical information, such as vital signs, DNA, microbiome data, as well as the amount of data that the patient gets their hands on is astounding. However, that also comes with responsibilities.
How much should the patient know?
As medical information was solely the terrain of medical professionals in the past, doctors had the exclusive responsibility to tell or not tell patients about possible risks. That can be a mortifyingly heavy burden. How do you explain to a cancer patient that she only has three months to live? How do you communicate with a son that his father suffers from a hereditary disease?
One of the few papers investigating the phenomenon of Alzheimer’s diagnoses found that as few as 36% of doctors said they usually told their patients if they had Alzheimer’s. What was the main reason for the intentional omission? Fear of causing emotional distress to their patients and the lack of time and resources to fully explain what the diagnosis means. That was true of both primary care doctors as well as neurology specialists who have more expertise in brain-related disorders. Robert L. Wergin, President of the American Academy of Family Physicians told Time Magazine that labeling someone with Alzheimer’s disease might have a serious effect on the individual who might think „well that’s it for me, I better start looking for nursing homes.”
With the phenomenon of patient empowerment and the changing dynamic of the patient-doctor relationship, some of the burdens might shift towards the patient in getting to know their risks. At least, in the case of genetic conditions. Some people are already more actively embracing the option of peeking into their own fate. “We’re seeing a shift,” Dr. Michael Hayden, a professor of human genetics at the University of British Columbia in Vancouver told The New York Times, who has been providing various tests for Huntington’s disease for 20 years. “Younger people are coming for testing now, people in their 20s and early 30s; before, that was rare. I’ve counseled some of them. They feel it is part of their heritage and that it is possible to lead a life that’s not defined by this gene.”
What can you do about it?
In the case of monogenic conditions, such as Huntington’s disease, but also Alzheimer’s, there is no cure. If you decide to live with the knowledge, you have to face the burden of impotence. You can support the research for finding a treatment for the condition, but you have to live with the absolute fact that you cannot change the course of the disease, you only have the option for mitigating some symptoms. While, if you decide not to take a genetic test or not to be informed about its results, you can have the hope that you don’t have the faulty genes. However, if the disease had already some victims in the family, that might be a somewhat illusory one.
In contrast, there are some conditions where you can only receive information about the risks of developing the disease and take precautionary measures. Some serious ones.
Angelina Jolie shocked film-loving audiences with the news about her double mastectomy after she publicized her BRCA genetic testing results and her risk for breast cancer. A merciless but effective way to avoid getting breast cancer. She decided to let her own body mutilate and her breasts, one of the symbols of womanhood, removed in an act of defense for her health. Could you make such a huge sacrifice for your body? Would you do the BRCA genetic test knowing that in case of carrying the risk for breast cancer you have such a harsh step as your choice?
Weighing the pros and cons in case of the BRCA test
Many would say it depends on the size of the risk. Together, BRCA1 and BRCA2 mutations account for about 20-25 percent of hereditary breast cancers; and about 5-10 percent of all breast cancers, which means quite an elevated risk. These numbers are even higher in the case of ovarian tumors: mutations in BRCA1 and BRCA2 account for 15 percent of that cancer type overall. So, if you know that breast cancer is in your family history, would you take a BRCA test? And if so, what do you do if the test is positive?
Researchers found that many women rushed to get genetic testing the days after Angelina Jolie’s announcement about the results of her BRCA testing. The “Angelina effect” was so intense that based on insurance claims for nearly 10 million women aged 18 to 64, BRCA testing rose 64 percent in the US in the 15 days after Jolie described her BRCA results and surgery. Moreover, a long-term study highlighted later that not only did the UK health system experience a 2.5-fold increase in referrals of UK women with family histories of breast cancer following Jolie’s revelation, but they reported a similar 2.5-fold rise in risk-reducing mastectomy.
In need of guidance for health risks and further steps
What does Angelina Jolie’s example say about BRCA testing and genetic risks? That if people have the tools to get to know their future risks and they can take steps for avoiding their “fate” they are willing to take the path. In this case, the publicity and the hype naturally induced increased interest in genetic testing, as it made many women aware that such tests exist.
That also means that people need guidance. They look up to others who already set an example for self-care, but The Medical Futurist indeed believes that in spite of the changing doctor-patient relationship, we will be in dire need for the experience, the vision and guidance of physicians. Doctors who would explain what the results of the genetic tests mean for the future of the patient. Doctors who are entirely aware of the ethical implications of their medical advice. Moreover, doctors who would advise for or against a risk-reducing mastectomy in each case depending on the person. Their knowledge and their years in medical practice will be irreplaceable when patients come to them and say they are facing a life-altering health decision.
Patients have to grow up to the idea of a proactive patient
However, it will be patients who will decide in the end. There will be fewer and fewer situations in the future, where doctors will have the sole responsibility to determine a patient’s case. Proactive patients will want to take part in their own care, be fully involved in their treatment and even go as far as trying to determine and shape their own future – through genetic tests for health risks.
The Medical Futurist believes that if you can take steps after receiving the genetic test, that’s a beneficial knowledge. However, if that’s something that leaves you impotent or with the knowledge of the possibility for a chronic disease within the next 30 years, it has to be carefully considered whether the person wants to take on that burden.
However, there are already many areas where you can do a lot for your health without even getting a genetic test done. You can measure your data with wearables; you can eat healthy food, you can go out and exercise, you can ask your doctor about your concerns and issues. The Medical Futurist believes that everyone has to get their game up and get ready for 21st-century healthcare, that is only state-of-the-art and accessible if we do everything for prevention and we are proactive partners in our care. That’s why it is of utmost importance to be conscious and contemplate questions like this. So, would you want to know your fate?
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