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Posts Tagged ‘genetic counseling’

Genetic counseling as a patient right, not as a progress killer

In Uncategorized on June 20, 2008 at 12:57 pm

Genetic future had a thorough and balanced post on Direct To Consumer genetic testing. The following discussion between Daniel, Deepak and Dr. Murphy shed further light on the issues surrounding this topic.

Seeing this discussion from the outside I have the following thoughts to share (the text underneath is also a comment on the above mentioned blog post):

I can tell you that I live in a country where genetic testing is regulated extensively: any pre-diagnostic or pre-symptomatic test can only be done by a few authorized (public) medical genetics centers, and must be followed by genetic counseling both before and after testing. These strict test-definitions actually include “innocent” tests like cyp-testing for pharmacogenetics. I can promise you that you do not want a situation like this. Over-regulation hinders progress and takes away personal freedom. While I am sure that some regulation should be in place (like lab-analyzes quality control and restrictions to avoid overselling of tests and/or test-results), medical counsel is not really that essential. This point is underscored by the fact that patients seems to largely ignore the potential impact of even the most damning of genetic test-results (Huntington’s, see my previous posts (1, 2, 3) on genetic counseling). That said, patients that feel insecure when faced with their own genetics (which is probably a lot of them) should most certainly have the opportunity to consult a physician knowledgeable in genetics. This however, should be implemented as a patient-right rather than industry-prohibition.

And the discussion goes on


And now suddenly, we don’t need genetic counselors anymore…..?

In Uncategorized on May 30, 2008 at 12:16 pm

With this post, my posts on genetic counseling are now a trilogy (which somewhat unfairly puts them in the same category as some amazing literature, – and films).

From a recent Nature News Special Report:

No one denies that genetic test results can be life-altering for some individuals. But research by Theresa Marteau, a health psychologist at King’s College London, and others has shown that most people are remarkably resilient in the face of traumatic genetic test results. They typically report feeling anxious or depressed around the time of testing, but these effects dwindle within a few months.

This fits well with my first post where I argued that the need for genetic counselors was overrated. After reading an article on Huntington’s disease however, I changed my mind, and wrote another blog post. But now, this quote contradicts what I thought was my final conclusions and I am left wondering where I stand … again:

Studies by Aad Tibben, a psychologist and psychotherapist at Leiden University Medical Centre in the Netherlands, and his colleagues showed that people who took predictive tests for Huntington’s disease mostly recovered from the shock. Many actually felt more in control after testing because they could make arrangements for care, or even for euthanasia.

And I am not the only one who is confused on these matters

With so much uncertainty about how people deal with genetic risk, is genetic counselling necessary or helpful for people undergoing the less definitive tests for an increased propensity for heart conditions or diabetes? “I’m convinced it’s necessary,” says Tibben. But he and others in the field acknowledge that there is little in the way of controlled trials to support their belief.

I have decided to go with the conclusion that the best thing to do is probably to do the genetic counseling,… and then evaluate,… and then stop doing it if it doesn’t work. This simply because to my knowledge, genetic counseling doesn’t do any harm. It may even do some good even if the effect is all placebo:

“……….Did the counsellor help the patient understand complicated risks, or just provide some face-to-face contact and empathy in a confusing medical world?

So, until someone comes out with a study that says that genetic counseling is harmful, this post will reflect my final (!?) postition. End of story (trilogy).

Now this is why we need genetic counselors

In Uncategorized on April 25, 2008 at 12:00 pm

After reading “Living at risk: Concealing risk and Preserving Hope“, which was an eye-opening experience, I am ready to argue against myself and the arguments in my previous post “Now why do we need genetic counselors ?”.

In this post I predicted that genetic counselors may soon be obsolete because nobody cares about low-risk alleles. In addition I argued that information on high-risk alleles is better managed by physicians.

The not caring bit is still true (unfortunately) as far as I know, but after reading the above mentioned paper, I need to modify my opinion on high risk tests. High risk tests in this context, are tests that if positive, means developing disease in the near future. Testing for Huntington disease is a model example of such tests since:

“Penetrance, the likelihood of showing symptoms of the disease if the associated genetic mutation is present, is virtually 100%.”

Thus, this is a clear medical case and a physician should be able to give adequate counsel to the patient. But, the issues a practitioner would face are so much more than medicine alone and recommendations for counseling goes wider than what is expected of a primary care physician:

Nearly every participant with children experienced terrible difficulty in talking to their children about their risk, even when the children were grown. We infer from this difficulty that practitioners could, and should, find ways to help people at risk develop plans for educating their children at an appropriate age. We envision such plans to be developmentally based, geared to answering questions at the child’s level, as well as being persistent and gradual in the presentation of the issues of importance.

This to me, sounds like genetic counseling. Further arguments for genetic counseling comes from the recommendations to the clinicians:

Clinicians also need to reflect on their own beliefs and biases about genetic testing, and to examine the extent to which those beliefs and biases present themselves in their care for people at risk for HD. Primary care health professionals need to be cognizant of the fact that just because a test can be done does not mean that it should be done. What these men and women are telling us is that it is not safe to assume that genetic testing for incurable diseases will necessarily provide information that is wanted, or needed, by those at risk and that testing may have a significant negative impact on the lives of their patients.

Objectively reflecting on genetic testing as well as telling the patient that it may actually be wise not to get tested, are probably things a genetic counselor would do better than the primary care physician.

So, the conclusion must be: I was wrong, we need genetic counselors. Reading “Living at risk: Concealing risk and Preserving Hope” will tell you this. In adition it will teach you that 80-85 % of at risk individuals elects not to undertake predictive genetic testing. They do so to survive since a lack of hope can be devastating:

Something that my uncle said, that I think really stuck with me, is he wrote a suicide note. He said that there’s such a big difference between living with hope and living with knowledge. And that he would take the living with hope any day. And so he really did not think we needed to know, one way or another.

…………and, proper counseling (not only genetic) may be a help for people in handling their life at risk since:

It is noteworthy that several participants said the interview for this study was their first opportunity to talk about the emotional side of HD, despite their years of experience with neurological, cognitive, and psychomotor testing …………… We think that unstructured interviews might actually change the views and actions of the participants with respect to their careful concealment of risk and their preservation of hope.

This is probably true. Regardless of the extent of counseling, it seems to me that genetic counseling for these patients and their family members is a good starting point.

The final take home message must be that not testing for a condition has significant value, especially when treatment options are scarce or non-existent.

Hope is sometimes a life saver. Knowledge on the other hand, can put peoples lives in ruins. Use this as a guiding light if you will, – I know I am going to.

Now why do we need genetic counselors ?

In Uncategorized on April 17, 2008 at 11:49 am

According to the National Society of Genetic Counselors, genetic counseling is:

“the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease.”

But a commentary in Science Magazine indicates that these admirable goals are unachievable. It turns out that patients given genetic information on predisposition to disease don’t really care. Consequently, they are unlikely to do any changes to their lifestyle based on the test-results. Behavioral epidemiologist Colleen McBride and human geneticist Lawrence Brody are quoted saying:

“They’re not having big emotional

And subsequently the author concludes that:

“Behavioral specialists have shifted from
worrying about the devastating effects of
learning about these new genetic risks to
wondering whether the information will
make any impression at all.”

The REVEAL study (by way of Genomeboy) modifies the picture slightly on the willingness to change lifestyle based on test results from APOE, but confirms the lack of distress or anxiety resulting from test results. The REVEAL study was designed to measure:

  • Who seeks genetic counseling and why
  • How APOE disclosure affects risk perceptions
  • The psychological impact of genetic risk assessment
  • How risk information affects participants’ subsequent health and insurance behaviors.

Where the findings included:

  • Disclosing APOE status and its association with Alzheimer’s risk to participants did not result in a significant increase in distress or depression.
  • Participants who discovered they had the high risk APOE e4 allele proved more likely to be proactive in changing their lifestyles and planning for long term care.
  • A majority of participants reported that REVEAL had made a positive impact on their lives (67% positive vs. 17% negative).
  • Participants were more likely to report lower, rather than higher, anxiety about Alzheimer’s disease as a result of being tested (43% lower vs. 11% higher)

Thus, it seems the fear of damage caused by genetic test results is unwarranted or at least highly exaggerated. So, the question is: is there still a need for genetic counselors to ease distress ?

Yes one might answer, since genetic counseling is still needed to interpret the result. … – But,

In addition to the well known test for BRCA1, genetic tests are increasingly emerging that will give clear cut answers. Additional examples are colon cancer and lung cancer if you are a smoker. Understanding the technology behind the test becomes less important when test-results leads to unambiguous recommendations. No need to know what a SNP is if having it gives you a disease risk of 80-90 %. Thus, counseling to explain the problem of uncertain statistical probabilities may soon be obsolete.

If the risk turns out to be less than 80-90 % (and consequently less reliable for a physician as a proper pre-diagnostic test), according to the piece from Science magazine: it looks like nobody will care. If this is the case, genetic counseling for tests associated with medium to low risk becomes superfluous.

As an alternative then, I would suggest that genetic counselors turn their focus towards relieving group damages from genetic testing. That may be the life saver for a group of professionals once thought to have a bright future, now facing a dim/boring one.