Genetic testing is becoming more and more common place in today’s medicine and that is not necessarily a good thing. In the past such tests were generally limited in scope and were directed at a few well-documented genetic diseases; genetic testing was paired with IVF technologies to select against children being born with these genetic diseases. There are many ethical issues to consider for this situation, but what I want to focus on here is the growing trend of testing for adult onset conditions.

Cancer, diabetes, heart disease, Huntington’s disease and other diseases have a basis in our genes. In a few cases, the genetic basis is a relatively simple one — mutations in a given gene give rise to a predictable disease outcome. For many adult onset diseases, however, this is not the case. Diseases like cancer and diabetes may involve problems in multiple genes and/or combinations of effects between genetics and the environment. Genetic tests designed to detect these diseases therefore run into the problem of predictive value — you may have a genetic tendency towards something but this is no indicator of whether or not you will actually get that disease. Breast cancer is one such disease that falls into this murky area.

Breast cancer affects a significant number of women, but the causes are not all the same. A small portion of the women who get breast cancer have mutations in the BRCA1/2 genes; the majority of breast cancers, however, are due to other mutations in other genes in combination with environmental factors (ex. smoking). But, if you have a mutation in the BRCA1/2 gene group you have a relatively high risk factor for developing breast cancer, particularly if another woman in your family has had breast cancer. Still, your risk is not 100%. This creates a problem. There is a genetic test for breast cancer, but it is only to detect defects in BRCA. If you get the test and you test negative, this does NOT mean you won’t get breast cancer — you still might get it, and your risk depends on many factors. On the flip side, if you test positive, you have an elevated risk, but this does NOT mean you will absolutely get breast cancer.

Confused?

Probably, and that is where genetic counseling comes in.

Genetic test results are just like any other diagnostic run by a doctor — they require explanation so that treatment, if needed, can be effected. Genetic testing, though, is still a developing field, and while the number of tests grows, the number of qualified counselors does not (note, a general practioner is not always “up” enough on genetics to be able to supplant the role of a dedicated genetic counselor).

This creates a significant ethical problem.

Some women upon learning that they have a mutation in BRCA choose to have radical mastectomies — that is, they have their breasts removed rather than waiting to see if they get cancer. This is an extreme form of “treatment”. Any woman making such a decision should have access to the best counseling before making such a choice.

The Lombardi Comprehensive Cancer Center at Georgetown University is starting a study to see if phone-based counseling works as well as face-to-face counseling for genetic testing results such as the case outlined above. Since there are few counselors and they are usually in large academic settings, the idea is that via phone they could be available to a broader swath of the population. The stakes are huge. Test results can tell you potential risk for anything from a chronic but treatable condition (diabetes) to potentially a life-ending disease (cancer). Counseling is needed, but is the phone the way to go?

Imagine going in for a test and being told to come back in a week. You return only to be handed a phone and a piece of paper with results on it. Even if you have access to a video phone, you still will not be in the same room with the counselor. Because of the spotty laws regulating genetic testing, it is possible you may not have anyone else in the room with you. Genetic test results are yours and they cannot be divulged to other family members or even your physician without your approval. Disclosure has its own ethical messiness, but let’s just say your spouse is allowed to be with you.

How would you feel?

Most of us, I dare say, wouldn’t feel very good.

Bad news is best delivered in person. It is much easier for a physician or counselor to gauge understanding, acceptance or denial, emotion, and a host of other things if they are in the room with you. It is imperative that a patient truly understand what their genetic test result actually means. What is the risk and how great is it? What is in your best interest to do? What do you do with what your genetic test tells you about others in your family [and you can glean quite a bit of information this way]? Who should be told about your diagnosis?

These are all important questions. Accessibility is the underlying issue. Ethically we must ensure that genetic testing is open to everyone and with it the counseling needed to interpret the results. Just because you don’t live next to a center that offers counseling doesn’t mean you should be excluded from the test. But, in increasing accessibility, we cannot ethically allow a decrease in the quality of care. If it is shown that face-to-face is in fact better than a phone call, then steps must be done to ensure that everyone has access to the same quality of care.

Genetic testing can give you far more information than you want and in the end give you no certainty. Care must be taken both with the tests and the results. The time to address the issues of how to impart those results and how to react to them is now, before too many more tests show up. Otherwise, medicine could end up doing more harm than good.

In the science section of the BBC International news website there is a seemingly innocuous little story entitled “Crusaders ‘left genetic legacy’” [BBC news March 27, 2008]. A group of researchers for the Genographic Project are attempting to study human migrations using genetic footprints. In the article the researchers studied the male Y chromosome which changes only slowly over time. Since the changes are slow to occur, they often lead to rather distinct versions of the chromosome appearing — these are called haplogroups. The haplogroups are stable enough to track over successive generations. Most individuals migrate relatively infrequently over the generations such that certain haplogroups become common in a given area. The idea then is if these haplogroups show up somewhere else, some type of migration (forced or voluntary) occurred to bring the haplogroup to a new area.

The reported study looked at 926 men currently living in Lebanon. What the researchers found surprised them. There were clearly two haplogroups present (not very surprising if you consider where Lebanon is located within the Middle East) but the haplogroups seemed to be grouped according to religion. Christian Lebanese men tended to have a haplogroup derived from European areas that had historically sent men on crusade to the Holy Land. Muslim Lebanese men tended to have a haplogroup derived from the Arabian Peninsula, from the groups that sent men to the Holy Land to repel European crusaders. This is, actually, pretty interesting, as the author of the study points out:

“The goal of the study was to put some science to the history of this country - which is very rich,” said Pierre Zalloua, a co-author on the paper, from the Lebanese American University in Beirut.

He added: “To have these great civilisations - with the Islamic expansion and the migration from Europe - coming to Lebanon, leaving not only their genes but also some of their culture and way of life, it can only make us feel richer.”

However, the question I would ask is whether we need to know it? There is already quite enough tension between different groups in the Middle East — pointing out genetic differences (which, ultimately, don’t really mean anything in this case) could potentially only make things worse. Whose to say someone won’t get it into their head to use this genetica information as a sorting mechanism to get rid of those with the “wrong” heritage.

The idea of such migration studies is, in part, to try and show that we all, somewhere along the line, migrated from someplace else, thus attempting to erase notions that we are all different. If everyone migrated from someplace else, how can you really treat people as “other”? We should all just act like one big human family. This is actually a worthy goal, but somehow genetically tagging individuals seems a little dangerous.

Genes don’t make you religious, or specifically Christian or specifically Muslim. Genes don’t really, by themselves, even account for why some people are smart, pretty, big, or whatever. But there are already ethical arguments over what to do about genes that might give you cancer, or heart disease, or diabetes. Can you be excluded from jobs because you might get sick? Can you be denied health coverage because you might be expensive?

Tagging someone as to where they come from only seems to be one more tool for those wishing to exclude, rather than include.

The 3rd District Court of Appeals in Wisconsin upheld a professional misconduct punishment ruling against a pharmacist yesterday and this is good news for all of us [Penalty for Pharmacist's Refusal Upheld, Chicago Tribune; press release, ACLU; and others].

In the case a pharmacist refused to refill a birth control prescription for a young woman after telling her point blank that contraception was wrong. He then refused to help her get her prescription filled at the pharmacy where he worked or at another pharmacy in the area as is required by the Pharmacy Licensing Board [the Board allows for religious objects, but they must be clearly stated to employers and the pharmacist is still obligated to get the prescription filled by someone else]. The young woman eventually did get the prescription, but not until after missing the start date for when she needed to begin taking it.

Upholding punishment in this case is justified. Moreover, pharmacists should all have to undergo ethical training so as to prevent this from occurring in the future. It is well within an individual’s rights to have strong religious convictions, but those convictions are NOT a sanction to put someone else’s health at risk. Which is the bigger sin? Filling a prescription or intentionally causing harm? I would argue the second.

Birth control and the morning after pill are the two most contested prescriptions in the realm of “conscientious objection” on the part of pharmacist. To some degree I would question the committment of any pharmacist who refuses to fill a prescription — if you find it objectionable why did you go into that profession? What’s more is that a pharmacist is not a doctor — he doesn’t know why the pill was prescribed in the first place. In most cases it is probably for birth control, but some women take the pill to regulate their hormones, thus making the pill necessary for the treatment of an underlying condition. And in any case, if abortion is a sin, then wouldn’t it be better to prevent abortion by preventing pregnancy?

My fear with objection to one or two prescriptions is that it sets up the proverbial slippery-slope for other meds. Are these same pharmacists also not filling prescriptions for Viagra — after all, why encourage sex? Will they decide to stop filling prescriptions for gay people — why keep them healthy if they are only going to live in sin, right? What about antibiotics — shouldn’t I just pray for relieve of my infection? Some people would say, surely not — no one would withhold an antibiotic. Think again. Today on CNN you can view a video of a child dying from diabetic complications while the parents sat over the child and prayed. Since when is insulin — a natural hormone we all make — so evil you can’t give it to your child to save their life?

Anyone who goes into a medically related field in theory is supposed to do so because they have the best interests of the patient at the forefront of what they do. Pharmacists have the same obligations of care as any physician. When a pharmacist allows their own religious beliefs to actively interfer with that, then in my opinion they committ a bigger sin, one of purposeful neglect. It is one thing to object to contraception, it is another to make the decision that no one should have it. To deny a legally prescribed medicine to anyone, with no knowledge as to the medical facts of the case, is irresponsible and counter to everything I have ever read in the Bible.

This court decision is a lesson for all of us. Your rights stop where mine begin. No one ever converted at the end of a sword. They aren’t going to do it at a pharmacy counter, either.