What Should Patients Be Told About Genetic Risk?

Experts disagree on how doctors should reveal incidental findings in patients’ DNA sequences.

By | May 7, 2013

WIKIMEDIA, RUTH LAWSON, OTAGO POLYTECHNICEarlier this year (March 21) the American College of Medical Genetics and Genomics (ACMG) released recommendations on what to do if whole-genome sequencing of patients revealed genetic risks not related to the original purpose of the testing. Last week (May 2) the ACMG released a second document clarifying its findings in the face of criticism.

The group stood by its recommendations, which stated that if sequencing revealed any of 57 dangerous mutations, the patient should be told regardless of whether he or she requested the information and regardless of age.

Critics have focused on the ACMG’s recommendation that findings of mutations be revealed even in children, saying they contradict previous statements that doctors should delay giving diagnostic tests for adult diseases in children until the children are grown up.

The ACMG’s clarification states that they see genetic tests as different from the diagnostics that fall under their other rules. While the diagnostic tests they had been talking about would likely be given to people when they reached adulthood because of known risk factors, in children with no signs of disease a mutation revealed in a genetic test might never be tested for again. Thus to fail to mention the mutation would be to harm the patient. Also, genetic mutations in children could be pertinent to their parents’ health, and good medical care for a parent is in a child’s interest.

“ACMG affirms its recommendation not to perform diagnostic testing for an adult-onset condition in children, but believes that reporting an incidental finding of a severe, actionable, pathogenic mutation falls outside this recommendation,” the group wrote in the clarification.

Critics have also said that patients should give informed consent to be told of “incidental” mutations before having their whole genomes sequenced. Robert Green, chair of the ACMG committee that drafted the recommendations and a medical geneticist at Brigham and Women’s Hospital, said in a Huffington Post blog post that requiring universal pre-test genetic counseling would be prohibitively time-consuming—most of whom wouldn’t turn out to have any of the 57 mutations anyway. Moreover, he argued that other areas of medicine do not ask for informed consent before looking for incidental problems. For instance, if a blood test for anemia revealed signs of leukemia, no one would think twice about telling the patient.

“The field of genetics has, for too long, held itself apart from the rest of medicine by assuming that incidental genetic risk information is dangerous sui generis,” he wrote in the blog post. “This is unsupported by accumulating evidence, and, as sequencing and interpretation will soon be inexpensively available, ignores the potential for recognizing known mutations that increase the risk of serious yet treatable disorders.” 


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Avatar of: jeenious


Posts: 45

May 7, 2013

If I a prison cell, and was informed today that tomorrow I would be hanged at dawn -- no exception -- you would deny me a good night's sleep tonight.

On the other hand, if you were to tell me that my name had gotten mixed up with that of another prisoner, and the guards were planning to take me to hang, rather than him, I might like to have a choice of whether to just just go along with the error, to prolong that man's life, by sacrificing my own.  Or, if it were certain that the error would be discovered, and that man hanged shortly anyway, I might like to  have a go at setting things straight.

In any scenario, whether a person "should" be told he has a high risk factor for some terrible event should depend upon whether that person wants to know, and whether there is anything that person would want to weigh, upon learning of it.

I know a lot of people who smoke, knowing full well what their statistical odds are of suffering unpleasant consequences.

Once my family and I went to lunch at a cafeteria and, ahead of us in line was a man pushing an oxygen tank on wheels, with a tube taped up his arm and into his nose.

During lunch I could not help but see that unfortunate man's back which faced me.  After a time, I saw him fidgeting with the valve on his oxygen tank, and I rose and went over to ask if he was having a problem with his breathing.

"No," he wheezed.  "I'm just turning it off, so I can smoke a cigzrette."

(A cigarette in an oxygen rich location blazes like a railroad flare.)

An acquaintance of mine smoked two packs a day, and drank two fifths of gin a day.  I know first hand.  He was a contractor, and I worked for him.  Every night of the year, after eating dinner, he fell asleep and slept in a recliner until dawn, whereup he got up, showered, dressed, equipped himself with two packs of cigs and two fifths of gin, and got to work.  His wife had threatened to leave him, had left and come back, had nagged him no end... to no avail.

One day, after he had suffered with a dry, painful sore throat, he went to a doctor who informed him he had a pre-cancerous condition indicating his vocal cords had to be scraped.  The surgeon advised this man that the scraping would not necessarily spare him from cancer, but if he continued his cigarettes and liquor, he would be dead in a year.

He quit.  That was eight years ago, and the man is still alive and sober and nicotine free.

I still say, before anybody perceives himself to be under a duty and an obligation to "inform" a person he or she is at high risk of something, the would-be informant needs to weigh whether it will do that person any good.

Okay, when in doubt, tell them.

But if there is not a shred of a doubt the person can do absolutely nothing but suffer fear and dread, how great is the obligation.

It's a judgement call.

In a combat situation, when a person is wounded and in shock and asks if he is likely to die, telling him it sure looks like it might be the straw that breaks the camels back of likelihood, and becomes a self-fulfilling diagnosis.

So, what's the verdict here.  Do we FORCE people to know things they either don't want to know, or that they can do nothing constructive about?

Having to make judgements about such things is a beach, ain't it.

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