You are a genetic counselor. One of your clients, Linda, had a boy with a genetic defect that may have a high recurrence risk, meaning her subsequent pregnancies has a high chance of being affected by the same defect. You offered genetic testing of Linda, her husband, and their son to find out more about their disease, to which everyone agreed. The result showed that neither Linda nor her husband carry the mutation, while the boy inherited the mutation on a paternal chromosome that did not come from Linda's husband. In other words, the boy's biological father is someone else, who is unaware that he carries the mutation.
You suspect that Linda nor her husband are aware of this non-paternity. How would you disclose the results of this genetic analysis to Linda and her family? What principles and who do you have to take into consideration in this case?
can you really be sure it was an inherited mutation? whabout homologous recomb, transposon type shit, random deletions insertions inversions
ReplyDeleteHi jp,
ReplyDeleteYour concern is valid, but that wouldn't be a good focus as an answer to a question like this one. As a general rule, I would advise against challenging a question even though it may rest upon unspecified or debatable assumptions, or it may be simplistic. This is not because you should avoid annoying the interviewers, but I think they are more interested in knowing how you deal with challenging situations rather than how much science you know.
If it helps, you can assume that the results of the genetic analysis shows a strong indication (say, 98% chance) of non-paternity.
Thank you for the clarification. Also, for a child to have a disease from a single allele, it would have to be dominant, in which case the "real" father would have the disease too. But, I get your point. I mainly answered like an obnoxious idiot because 1. I'm a douchebag and 2. I really don't know what the appropriate medical professional response is.
ReplyDeleteI'd sit down with both the parents and keep a psychologist on call. Then I'd break them the news. It's a tough cookie.
In any case, I'm just glad I'm not a genetic counselor.
Hi there,
ReplyDeleteI just came across this website and this question really caught my attention, mainly because I have no idea how I would go about answering something like this, haha.
Do you have any suggestions about the proper way to deal with this type of situation?
Hi there,
ReplyDeleteThanks for leaving a message!
I probably have mentioned this elsewhere on this blog, but the key point in answering questions like these is to realize that there is not a single right answer. Instead, these are meant to test your ability to see the dilemma and deal with it objectively and in a balanced way. What I mean by that is, using this case as an example, you should point out the issues at play: confidentiality for the gene carrier, benevolence of informing the carrier, the emotions that your patients may be going through, the care of the new born child may be jeopardized, etc. Once you list out the things you need to think about, you can then talk about what you would do after considering them all. If you have time, you can also talk about your approach (how to set up the interview, empathy, etc)
Questions like these always get to me. Infidelity just hits a nerve with me, you know? At first I thought I would bite the bullet and tell them the hard truth (after all, they deserve it.... right???), but I reconsidered. All in all, nobody can change the fact that Linda cheated. They could go on, blissfully ignorant of the non-paternity, and only Linda would have to bear infidelity on her conscience. And she either regrets it, or she doesn't. Either they can deal with the truth, or they can't. Either way, I'm in no position to judge her conscience, and I'm not about to risk breaking up a family on the premise that they *might* be able to come to terms with the infidelity. Better to remain intact as a family that can support a child than break it up because I thought I should shed light on a dark past. If the truth comes out another way, that's fine, but it wouldn't come from me. So I'd lie. I'd tell them they're lucky. Spin some load about how they have a rare allele that lessens the risk of having more children with this defect, but doesn't eliminate the risk. At least that way, they're given some hope for having children, but the family remains intact for the time being, and able to rear their child more effectively. As I said, there's no changing Linda's infidelity, and it may come back to bite everyone in the ass, but I don't have to force that outcome on them. I believe lying is ethical in this situation.
ReplyDeleteAnd some might disagree. Some might argue that I, as a doctor, should be forthright with my patients, particularly if I am going to lie about their medical background, making them believe that they can't have normal children with any partner. But there's another person embroiled in all this: the boy. That boy is a dependent, and therefore vulnerable to whatever happens to the family. So while I agree that honesty is important, I disagree with the notion that doctors should be honest in all cases. This is an example of where lying could be the better action.
Hello friend,
DeleteJust want to point out that there is a House M.D episode discussing about similar scenario. Season 1 episode 7: fidelity. What I have learned is that lying is not appropriate way to proceed in this case. It is risking the inability to use proper medication towards the child since the parents haven't agreed to use such treatment due to unawareness and also risks the man that had cheated on Linda who could have more children and spread the mutation to those children. This will all result in financial losses for the hospital. So it would be better to question whether Linda cheated and to show genetic proof that she did.
Hello friend,
DeleteJust want to point out that there is a House M.D episode discussing about similar scenario. Season 1 episode 7: fidelity. What I have learned is that lying is not appropriate way to proceed in this case. It is risking the inability to use proper medication towards the child since the parents haven't agreed to use such treatment due to unawareness and also risks the man that had cheated on Linda who could have more children and spread the mutation to those children. This will all result in financial losses for the hospital. So it would be better to question whether Linda cheated and to show genetic proof that she did.
if patient confidentiality was upheld neither parent would have the complete information necessary to prove infidelity.
ReplyDeleteI would speak with the mother alone and tell her what the result was. I would tell her that in the interests of both the child's future, his children etc and also in the interest of the biological dad that does not know he has the mutation....but needs to know because he may decide to have more children etc. She will need to tell her husband the truth. I would give a few hours/days for her to talk to her husband and warn her that if she does not tell him I will have to in the interests of the child and the others that are destined to possibly have this mutation. They should know because the mutation may well be able to ''get fixed' with today's genetics technologies. Or it may be life threatening, so some operation or medications need to carried out or taken (respectively)
ReplyDeleteI think all parties in the situation have the right to know about the results. I would disclose the results to each person privately and try and not meddle with their personal affairs. I would start off with Linda and let her know that she or her husband do not carry the mutation, and that I believe it was likely transferred by another person. I would not question any further and I would avoid using the term “cheating” and bringing up infidelity. I would then let her talk to her husband first and let them discuss the results in private.
ReplyDeleteIf Linda doesn’t disclose the results to her husband, I would disclose the results to him in private myself as I believe the husband the right to know. Again, I would just present the results plainly to him and not delve further into their personal lives. As a healthcare provider you have a duty to report any important healthcare information and supressing of the results would be negligent on your part.
For the son I would recommend to them to keep it private from him and tell them about the details of the results when he’s old enough to understand the situation. The son eventually has to know about the genetic defect as he may have kids in the future.
As for the other man, I believe he also has the right to know about the results as the defect has a high reoccurrence rate and he may not know he is a carrier. I would disclose the results to him privately and separately from Linda and her husband.
I think all parties in the situation have the right to know about the results. I would disclose the results to each person privately and try and not meddle with their personal affairs. I would start off with Linda and let her know that she or her husband do not carry the mutation, and that I believe it was likely transferred by another person. I would not question any further and I would avoid using the term “cheating” and bringing up infidelity. I would then let her talk to her husband first and let them discuss the results in private.
ReplyDeleteIf Linda doesn’t disclose the results to her husband, I would disclose the results to him in private myself as I believe the husband the right to know. Again, I would just present the results plainly to him and not delve further into their personal lives. As a healthcare provider you have a duty to report any important healthcare information and supressing of the results would be negligent on your part.
For the son I would recommend to them to keep it private from him and tell them about the details of the results when he’s old enough to understand the situation. The son eventually has to know about the genetic defect as he may have kids in the future.
As for the other man, I believe he also has the right to know about the results as the defect has a high reoccurrence rate and he may not know he is a carrier. I would disclose the results to him privately and separately from Linda and her husband.
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ReplyDeleteI realize that non-paternity has been around for ages and nondisclosure may be the most common practice?
ReplyDeleteI believe it is wrong, unfair and discriminatory against husbands and/or fathers. Perhaps I'm a bit harsh, but lying is lying, deceit is deceit and a bamboozle is a bamboozle.
The wife (Linda) for whatever reason sleeps with another man (Ghost) and gets pregnant and could have a dangerous std. I don't believe the wife's deceit should be upheld by any medical establishment and/or personal - including genetic counselors and doctors. She probably has some suspicion that Ghost is the father. Some might try and classify it as just a simple mistake and it wasn't, because she is an adult who made a (premeditated) "conscious decision" to have sexual intercourse with Ghost behind her husbands back and did so without any protection. This act of adulterous infidelity (deceitful act) and non-paternity shouldn't be condoned and hidden from the husband. Doing so is aiding and abetting a selfish deceitful act. Keeping this from the husband is allowing the wife to faithlessly and insidiously foist a spurious child into the marriage and that is every level of wrong. The truth is already known. keeping it from the husband and beguiling him with subterfuge is an deceptive act of sly hoodwinking. No medical (genetic) establishments should condone and bolster lies & deceit. Every women should know upfront that any deceitful acts like (fraud) non-paternity will not be covered up and kept from the husbands. There shouldn't be any impartiality, duplicity and discrimination and inequality against husbands.
The Wife should be told that she needs to come clean and tell her husband the truth even if it leads to a divorce and if she wasn't willing to tell him, I would tell him.
I would ask her for the name of the biological father - Ghost. I would let her know that his identity would be
kept private.
Knowing the truth the husband can decide (fairly) if he wants to stay with her and bring up the other man's child. This way he gets to make a decision, instead of being lied to and deceived.
Note: I used Ghost to represent the biological father, because in most cases of non-paternity where cheating wives have been found out, the identity of biological father is almost always kept secret.
A bit harsh? There is no evidence that Linda 'cheated' on her husband. You've made some very strong assumptions here that are routed only in your own prejudice. What if Linda was assaulted and that's why she concealed this information? You have no idea why Linda has held this information from her Husband. In this scenario, you are a genetic counselor; not a family counselor. Your objective is to deal with the genetic defect. In fact, there is also no evidence that this genetic defect is even all that harmful. Male pattern baldness is a genetic defect. Would you go through all this trouble of guilt shamming Linda over something as silly as that?
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