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Posts from the ‘Genetic testing’ Category

Psychological Effects of Personal Genetic Testing

Direct-to-consumer genetic testing is becoming more and more apparent even though its clinical validity and utility are pretty questionable regarding medical decisions. Eric Topol and his team now studied over 2000 patients who had genomic tests (Navigenics) and reported if there was any changes in symptoms of anxiety, intake of dietary fat, and exercise behavior. The results are not surprising therefore they raise the question whether these tests can be used for anything at all. The study was published in NEJM.

From a cohort of 3639 enrolled subjects, 2037 completed follow-up. Primary analyses showed no significant differences between baseline and follow-up in anxiety symptoms (P=0.80), dietary fat intake (P=0.89), or exercise behavior (P=0.61). Secondary analyses revealed that test-related distress was positively correlated with the average estimated lifetime risk among all the assessed conditions (β=0.117, P<0.001). However, 90.3% of subjects who completed follow-up had scores indicating no test-related distress. There was no significant increase in the rate of use of screening tests associated with genomewide profiling, most of which are not considered appropriate for screening asymptomatic persons in any case.

In a selected sample of subjects who completed follow-up after undergoing consumer genomewide testing, such testing did not result in any measurable short-term changes in psychological health, diet or exercise behavior, or use of screening tests. Potential effects of this type of genetic testing on the population at large are not known.

(Hat tip: Medgadget)

Personal Genomics in the News

There are 4 articles focusing on personalized medicine I would like to share with you today.

Personal Genotyping Course Progress Report

At the Stanford School of Medicine’s Scope blog, Lia Steakley recounts student participation in the school’s summer elective course that offered the physicians-in-training the option to study their own genotype data. “Overall, 33 students in the class of 60 … opted for personal genotyping. Ten others analyzed their genetic background using commercial services before the class,” Steakley reports, adding that a Stanford task force will deliberate to determine whether to offer the course again. Our sister publication Genome Technology spoke with Stuart Kim, one of the course organizers, and professors at other medical schools who’ve incorporated genotyping components into classes they offer for its September issue.

Focus on biomedical art

Personalized investigation

Despite continued doubts about the clinical utility of direct-to-consumer genetic tests, tens of thousands of people have sent away tubes full of their saliva to learn more about their genetic profiles. Armed with such DNA data, a number of early adopters are showing how empowering—and beneficial to science—personal genetic information can be. Elie Dolgin reports on one company’s plans to make medical genetics more participatory.

Next Generation Sequencing viewers reviewed

I gathered up some of the recent free next generation sequence viewers that were capabale of viewing BAM files – and put each through the motions with a few BAM files and reference sequences of various sizes. While there are some great ideas and several choices to be found along the feature spectrum, I think we are still in the dark ages with this stuff. No viewer has really been able to entirely combine usability with performance and analysis capabilities, let alone extensibility and web connectivity.

Personalized Genomics in the News

I would like to share three papers, articles that focus on the personalized genomics market with you. Almost 3 years ago, I wrote about that FDA had suggested two genetic markers to be used to determine the minimal starting dose of Coumadin. Later, in a paper, Rosove et al. said that “The value and cost-effectiveness of genetic testing to reduce bleeding or thrombosis rates remain unknown.”

Well, now it seems there is the answer.

Patients who received a test of two genes connected to warfarin sensitivity were 28 percent less likely to be hospitalized for a bleeding episode or blood clot than those whose safe and effective warfarin dosing was determined by traditional trial and error method.

Also researchers have provided the first published example of genome-scale RNA and DNA sequencing of a tumour to aid in clinical decision making and therapeutic choice.

“Utilizing a complete map of the molecular changes within a tumour in a clinical setting represents a world first in the application of this technology,” says Dr. Steven Jones, associate director of the Genome Sciences Centre and professor, Simon Fraser University. “It ushers in the era of personalized medicine in oncology, whereby therapies will be tailored precisely to the genetic make-up of the tumour. I anticipate that in the not too distant future nearly all patient tumours will be characterized in this way as a matter of course.”

And Health Populi reported a very interesting correlation between DTC ads, genetic pre-disposition, and healthy decisions:

A team of researchers now finds that DTC can play an important, positive role in motivating health consumers to adopt healthy behaviors. “The intention to engage in healthy lifestyles was strengthened by exposure to familial risk cues in DTC ads and this effect was mediated through enhanced efficacy to take healthy actions,” the paper concludes. Familial risk cues engendered positive self-efficacy.

Personalized Genomics on Slideshows

When preparing for this year’s Researchers’ Night (details below), I was trying to collect some information and updates about the consumer genomics market for my presentation and found great slideshows. Enjoy!

If you thought that research was all about lab coats and Bunsen burners, think again. Like everyone else, researchers come from numerous backgrounds, have diverse interests and pursue a spectrum of hopes and dreams.

One thing they all have in common is a passion for research – and they want to share it with you. The European Commission’s ‘Researchers in Europe’ (RIE) initiative allows citizens to get closer to our researchers and gives a face to European research.

DNA Dilemma on Newsweek

Mary Carmichael at Newsweek had a great series of articles focusing on direct-to-consumer genetic testing. An excerpt:

I’ve been following DTC genetics since 2007, when wide scanning first became available to the public. Since then, a number of writers have gotten wide-scale genetic tests and expounded on the results. Indeed, I sometimes wonder if I’m the last science reporter on earth with virgin genes. (Technical virgin: My doctor gave me a cystic fibrosis carrier test when I was pregnant.) Initially, I put off getting a full-genome scan because I wasn’t sure how useful such a test would be. I had no particular reason to take one, save curiosity. I wouldn’t expect to find anything serious and potentially life-altering like the Huntington’s disease gene in my results, because my family medical history is thankfully rather boring. The data most likely to be medically relevant to me would concern the genetics of common diseases, and at the time, many comprehensive and well-designed studies of those were still getting underway. I decided to wait a few years and see how research progressed. But here I am, three years later, still unsure.

Health 2.0 News: Centrifuge for Labor and Behind

At the moment the sensitivity and specificity of a lot of genetic tests for complex, polygenic disorders (for which we haven’t yet identified all the genetic variants that increase risk) are unlikely to match those of standard diagnostic or screening tests.  What’s likely is that the predictive capacity of these tests will improve as more variants are identified, and/or if additional non-genetic information is included in the test.

  • Statistical analysis is a collaboratively edited question and answer site for people who love stats. It’s 100% free, no registration required.

National Society of Genetic Counselors: Interview with Elizabeth Kearney

Elizabeth Kearney, the President of the National Society of Genetic Counselors in the US, gave me an interview this weekend, and commented on how direct-to-consumer (DTC) genomic companies should provide their customers with genetic counseling, which is a crucial part in the whole process.

As President of NSGC, Liz Kearney is responsible for leading the association and serving as the chief spokesperson. Liz is committed to promoting the many benefits genetic counselors bring to other healthcare professionals and patients.  Liz received her genetic counseling degree from the University of Michigan in 1996 and practiced in a variety of settings, including prenatal diagnosis centers, a general genetics department, and a diagnostic laboratory.  She also earned an MBA from Northwestern University in 2006, and in 2007.

1) Recent news have been focusing on regulations around DTC genomic companies such as 23andMe, Pathway Genomics or Navigenics. How do you think DTC genomics should be regulated?

The NSGC would support regulation that requires the involvement of a qualified healthcare provider in ordering, interpreting, and delivering genetic information. In the mean time, the NSGC strongly recommends that consumers talk to a genetic counselor prior to having genetic testing to discuss what questions or concerns they have. A genetic counselor has specialized training in both medical genetics and counseling and will review a person’s family and medical history in light of the person’s specific questions to determine if there is appropriate testing available.

2) We, genetic bloggers, have been writing a lot about the potential problems with these genetic tests and the harm they can cause to laypeople. Is genetic counseling the solution for this?

Seeking genetic counseling prior to genetic testing is an excellent way to protect against potential harm to consumers who do not have much knowledge or experience with genetics. Sometimes tests will provide helpful information and sometimes the information is either not helpful or even alarming.

For example, if you have concerns about a history of diabetes, a genetic counselor would review the family history in detail before ordering any genetic testing. It may be that the family history is sufficient to raise concerns about your chances to develop diabetes, and then the genetic counselor would recommend you talk to your primary care doctor about regular diabetes screening. Additional genetic testing may only confirm what is already known (through reporting an increased chance) or falsely reassure you (through reporting a lower chance) because the genetic factors tested are not the ones causing diabetes in your family.

On the other hand, genetic tests can reveal powerful information. For example, a 30 year-old male with shortness of breath saw his doctor, who performed an ultrasound detecting a thickening of the heart muscle (hypertrophic cardiomyopathy). This thickening can be an inherited and treatable condition. The cardiologist worked with a genetic counselor to order the appropriate genetic testing, and the genetic counselor explained the positive results which allowed identification of other relatives at-risk to allow surveillance and earlier treatment. The testing may have helped save or prolong the lives of the individual and/or his relatives, but the doctor and patient needed the help of the genetic counselor to identify the right test for him and explain the results.

3) How can I contact a genetic counselor after ordering DTC genetic tests? As I can order such tests online, could I also contact genetic counselors the same way? What about patient privacy?

Patients who have DTC genetic testing can absolutely contact a genetic counselor to review the results afterward. You can find a genetic counselor by visiting, and clicking on the “Find a Counselor” link on the left-hand side of the homepage. The drawback of waiting to contact a genetic counselor until after ordering testing is that you may pay for genetic testing that is not helpful in answering your specific questions or may reveal alarming information that you weren’t expecting to receive.

Recent legislation, the Genetic Information Nondiscrimination Act (GINA), protects people from discrimination by their employer or insurer based on genetic information in the absence of manifestation of disease. Therefore, consumers can be comfortable sharing genetic test results with a genetic counselor or other healthcare provider if it is in the context of their medical care.

4) Genetic counseling is the most important part of the whole DTC genomics process. Do you think DTC genomic companies do their best to provide their customers with the possibility of speaking with a genetic counselor?

Each company is different, but consumers should look for companies that employ genetic counselors and strongly encourage or require speaking with a genetic counselor prior to genetic testing.


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