GENEWATCH
 
GENETIC COUNSELORS: DON'T GET TESTED WITHOUT ONE
By CRG staff - interview with Elizabeth Kearney
 

Elizabeth Kearney is President of the National Society of Genetic Counselors.


Is there a brief definition that you give people when they ask "what is a genetic counselor?"

If I'm meeting somebody and they ask me what genetic counselors do, I tell them that genetic counselors work with families or individuals who are either at risk for or have a genetic condition, we take their family and medical histories, and we help assess what their chances are for that condition; we go over whether there are tests available and what is good and bad about that testing; and if there is a diagnosis, we explain what it means and connect them with the support that they need, whether it be medical professionals or a support group.

 

Are there certain scenarios when you would tell someone not to get a test?

If someone doesn't have a history that would predispose them to a condition, we really want to understand their reasoning for getting a test for it. Part of it is a matter of spending our health care dollars wisely. Obviously if someone wants to pay for it out of pocket, understanding that this information may not be as impactful as they were hoping, that's one thing. The more typical scenario genetic counselors deal with is when we are billing insurance, so we have to be careful to consider whether someone really has a risk that justifies using health care dollars to assess it.

The second part of it is the psychosocial element. If somebody really wants to have testing done, we want to ask them some questions about why, and why now? I had a patient who wanted to be tested for Huntington's disease six months before she was getting married. It was totally medically appropriate—her father had been affected—but she was six months from getting married, so I asked her: Why now? Would this change anything for you? And after that discussion, she thought about it and decided that now wasn't the time.

 

A good deal of attention has been drawn to direct-to-consumer genetic testing recently on Capitol Hill, from the GAO report to FDA and congressional hearings. Do you think the attention is steering the conversation in the right direction?

I think the positive thing that's coming out of all of this is that it's engaging people. I believe that more consumers and more physicians are aware of the availability of genetic testing, and I hope that they are learning about some of the possible benefits and drawbacks of obtaining genetic information. So I see that as a positive outcome. Genetic counselors work primarily with patients and obviously we care a lot about people having access to genetic information, so a real benefit that has come out of this for patients is that they probably are more aware and might be more likely to inquire about genetic testing to help them.

From the NSGC's perspective, I think it is most important for people to know that they have the opportunity to meet with a genetic counselor before they have testing, to determine if testing is right for them, to find an appropriate test, and to have support interpreting the results if they decide to have testing. So the benefit of all this is that it started a conversation, and I see that as fundamentally a good thing.

 

Do you find that many customers of direct-to-consumer genetic tests are coming to genetic counselors first?

There has definitely been an increase in recent inquiries, but I don't know whether it has been more frequently before or after the test. I certainly know of situations where people have contacted genetic counselors after the fact.

One example is a woman who'd had carrier testing for a number of genetic disorders and was found to be a carrier of Alpha-1 antitrypsin deficiency, a condition which results in early lung problems and basically causes emphysema even if the person is not a smoker. You have to have two copies of the gene in order to be affected, and this individual had only one copy. She had not had any genetic counseling beforehand, and she called the genetic counselor in a panic and thought that she was at risk for the condition.

 

So the report wasn't clear about the difference between being a carrier and actually being at risk for the condition?

Exactly, so she thought that being a carrier would mean she could be affected by those symptoms. It's an example of the value of meeting with a genetic counselor beforehand. A genetic counselor will ask why you want to have the test, go over which tests are right for you, and explain what you can learn and what you won't learn from it. If you still want to go ahead, that's fine, and you already have a relationship with that counselor and can call them up right away and go through the results and not have to go through that period of panic.

 

Would you be concerned about a conflict of interest if customers go to a counselor on the DTC testing company's payroll instead of an independent genetic counselor?

I think it's obvious there's some inherent conflict of interest. That doesn't mean that someone who is a board certified genetic counselor who works for a company cannot provide good care to a patient, but it's important to look at the incentives and how those counselors are evaluated … but I think it's fair to say there is some potential inherent conflict of interest, and patients could avoid all of that if they contact a genetic counselor who is not affiliated with the company.

 

Is there a best practice scenario you can point to where genetic counselors are working together with test providers to reach the best outcomes for patients? Is there a model already in place?

If you look at more classic genetic testing—testing for single gene disorders like cystic fibrosis, sickle cell, and Tay-Sachs disease—a lot of laboratories work with the requirement of having a provider involved and they have close relationships with genetic centers. For example, academically based labs will often have a genetic counselor based in the lab, primarily to get in touch with a provider if something doesn't look right. For instance, there may be a question as to whether the patient is really ordering the right test, and those genetic counselors who work in the lab might get back in touch with whoever ordered the test and advise them about whether this is the test that they really want. In this model the genetic counselor is in a sense the gatekeeper for the appropriateness of testing.

 

Is there any particular trait or set of traits being routinely oversold in terms of utility for patients? Put differently, is there a test or area of testing where you think a genetic counselor is most needed?

One of the areas of concern is when someone is ordering the wrong test. One problem is simply that ordering the wrong test is a waste of money; but the more significant concern might be around not integrating information from genetic testing with medical and family history.

I would use diabetes as an example. Suppose somebody has a family history of diabetes and they are wondering about their own risk of developing diabetes, and they have a test result that shows they have decreased risk over the general population—but they have a family history of diabetes, and maybe it's even a woman who has had gestational diabetes during a pregnancy. A genetic counselor would look at all of that and integrate it, and tell that patient that while the test result was reassuring, most likely the genetic factors responsible for the diabetes in your family are not those that were tested in this particular test. That's an example of when a test is misinterpreted as being sufficient information on its own, when you really want to integrate it with family and medical history.

 

Has the profession of genetic counseling changed as more direct-to-consumer genetic tests have been introduced?

Actually, I don't think that the practice of genetic counseling has changed that dramatically. The model for how we care for a patient is the same whether we're testing for single gene disorders or whether a patient is coming to a genetic counselor with a report from a direct-to-consumer lab. I also think that it's a pretty small percentage of the population that's pursuing direct-to-consumer testing without the provider involved. So I really don't think that, as of yet, it has influenced the practice of genetic counseling very much.                                

 
 
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