PreMDpilot

One gets to learn all kinds of interesting things in medical school. Some of the most interesting for me are the ethical dilemmas one encounters. I think it's because I always think I have the right answer. I know what I would do in this case. But it rarely turns out to be the right answer (if there is a right answer).

Today's case concerns a 48 year old woman who presents to her neurologist with a complaint of abnormal, jerky, involuntary movements. The physician suspects a diagnosis of Huntington's chorea and confirms this suspicion with genetic testing. He explains to the patient that Huntington's disease is an incureable neurological condition which involves the gradual development of uncontrolled abnormal movements and eventually progresses to irreversible dementia and death within 10 years of diagnosis. He also explains that the condition is inherited in an autosomal dominant fashion with the result that there is a 50% chance her children may carry the gene for the condition although at this point it would asymptomatic. The patient refuses to give permission to the physician to inform her two daughters of the diagnosis, despite the fact that they are both in their early twenties and one of them is planning to get married and start a family within the next six months.

What would you do?

The essential dilemma is the physician's obligation to inform the daughters about their potential risk, versus the right of the mother to keep her information private. My immediate, gut reaction is to look out for the well being of others and inform the daughters. A more thorough analysis reveals why this might be a mistake. I learned to analyze dilemmas like this with a three tiered approach.

The first question you have to ask is what would I want in each of their places? If I were the daughters, I personally would want to know, but as a physician I can't say whether or not they would want to know. If I was the mother, I wouldn't want to admit that I may have caused something that will eventually hurt them, but I would want them to have the information to plan with. This analysis comes up pretty empty

The second question is: what is the greatest good for the greatest number of people? This one is a little more obvious. The greatest good usually comes from having as much information as possible. Not much good has ever come from keeping important secrets, especially of a personal nature. The mother might suffer if the information comes out, but more people including daughters and future generations will benefit from that suffering. This one comes down on the side of informing the daughters.

The third questions is: What would you want to become a universal principle? In other words, if you could write a law as how everyone would act in this situation, what would that law say? If a doctor was confronted with the same situation where he knows the patient's diagnosis but knows that information will bring lots of suffering, what does he do? This one is tough to use because it's such a personal nature. A doctor would be obligated by the profession to tell the diagnosis to the patient. But is a mother required to tell her daughter? I feel like maybe universal honesty and disclosure might cover it, but it's a little shaky.

Using that analysis, the principles lean toward telling the daughters and I feel like that is the right thing to do. The next thing to do is examine the literature and precedent for cases like this to see if something like this has happened before. There are two articles that seem pertinent.

JAMA; Between a Rock and Hard Place
Pediatrics: Physician's Duty to Warn Third Parties About the Risk of Genetic Diseases

From Pediatrics

In Pate v Threlkel, the highest state court in Florida unanimously held that a physician has a duty to warn a third party about a genetically inherited disease.⁴ The plaintiff was receiving treatment for medullary thyroid carcinoma and sued the physicians who had previously treated her mother for the same condition, but with whom the plaintiff had no patient-physician relationship. The plaintiff alleged that the physicians failed to warn the mother that her condition could be genetically transmitted and that her children should be tested. The court stated that a duty to warn the patient of the genetic nature of the cancer is determined by expert testimony. If such a duty exists, it is also applicable to the children. However, the court, citing state confidentiality laws, held that the duty was satisfied by warning the patient about any genetic ramifications of the disease.

In Safer v Pack, an intermediate appellate court in New Jersey unanimously ruled that a physician has a duty to directly warn those third parties known to be at risk of avoidable harm from a genetically transmissible condition.⁵ Safer involved a suit by a plaintiff against the estate of a physician who had treated the plaintiff's father for multiple polyposis with adenocarcinoma of the colon >30 years earlier. At the time of the father's death in 1964 caused by metastatic cancer, the plaintiff was 10 years old. At age 36, the plaintiff was diagnosed with cancerous blockage because of multiple polyposis of the colon with evidence of metastatic disease. The cause of action against the physician was for professional negligence, alleging that multiple polyposis is a hereditary condition that, if undiscovered or untreated, invariably leads to metastatic colorectal cancer. The appellate court held that the physician's duty to warn those known to be at risk of avoidable harm from a genetically transmissible condition extends to members of the immediate family. The highest state court in New Jersey refused to consider the case on appeal.

These cases are always kind of scary. They expected a doctor to remember the son of a man he treated for colon cancer almost 30 years ago. Did we even know what colon cancer was back then? That seems like quite a stretch. But these cases come down firmly on the side of informing the patient if there is a great risk to that patient. But only if there is an immediate or great risk. Otherwise, side with the privacy side. So that was really no help. The articles go on to describe the ideal situation.

Ideally, the physician would convince the mother to tell the daughters herself. He/she would be there for support and for infomation, but the obligation to tell lies entirely with the mother. In this situation, I would sit there and talk to the mother for as long as it took to get her to see that it's right to tell her daughters the diagnosis. That they need to know for their kids' sake and that the consequences of not informing them are so much greater. What if one of the daughters had a child and later found out that her mother didn't tell her the diagnosis and that her child now has the potential disease. She would fret about her child her whole life and she might never forgive her mother for not telling her. Honesty is always the best policy, but it's the patients who need to be honest.

Here we go

I've been waiting for this moment for the last two years and it's strangely anticlimactic now that I'm here. There was no grand entrance, no fireworks, no huge party, no bells and alarms going off in my head. There's just amazing people, new surroundings, and a quiet acceptance that this is going to be a defining time in my life. Med school is going to change everything from what I wear to work every day to the basic way that I interact with people. It's has already started to change my choices with what I want to do with my life, with what I hold most dear and sacred, and how I will choose between right and wrong.

In four years of hard work, sacrifice, determination, and life, I will hopefully emerge a better man and prepared to be a great physician.