Clinical Genomics

Genomic testing is a huge topic lately. It is easy to see the benefits of pre-screening patients for predispositions to diseases or adverse effects of medications. However, this article investigated the drawbacks of clinical genomics and pointed out some of the very real concerns that exist in genomic testing as it exists today.

The main point of the article was to point out that genomic testing really doesn’t tell all. Sure, you can see if a certain gene is mutated or not, but there is no definite way to tell how that will affect the patient. Each patient has other, different genetic factors that certainly will affect their chances of developing a disease or reacting to a medication. Simply knowing if a mutation is present is not enough to counsel a patient in most cases. Most of the genes being tested for are not fully understood and other factors will go into the patient’s outcome.

This article is not to dismantle the progress we have reached when it comes to genetic testing. It does serve the purpose, however, to lower the expectations people have for clinical genomics. Right now, the idea of clinical genomics is highly acclaimed. In reality, it isn’t all that applicable yet and there is plenty of room for growth and improvement in the process.


Read the full article here.

Manrai AK. Ioannidis JPA. Kohane IS. Clinical Genomics: From Pathogenicity Claims to Quantitative Risk Estimates. JAMA. 2016;1519

BRCA Mutation Testing in Young Women With Breast Cancer

In young women diagnosed with breast cancer, BRCA testing is recommended. This study looked at the decisions surrounding testing and how results may influence treatment decisions. The study’s objective was to describe the genetic testing and evaluate how concerns about genetic risk affect treatment decisions in these young women. There were 897 women aged 40 years and younger observed that all had a breast cancer diagnosis.

A total of 780 women (87%) reported BRCA testing by 1 year after breast cancer diagnosis. This study took place from the year 2006 to the year 2014. As the years went on, a bigger percentage of women reported testing. For example, in 2006, 30 of 39 women (76.9%) reported testing. In 2008, 141 of 146 women (96.6%) tested. Among the untested women, 43 of 117 (36.8%) were thinking of testing in the future. A total of 248 of 831 women (29.8%) said that knowledge or concern about genetic risk influenced surgical treatment decisions. In conclusion, rates of BRCA mutation testing are increasing in young women with breast cancer. Given that knowledge and concern about genetic risk influences surgical decisions, all women with breast cancer should be counseled and offered genetic testing.

We have started talking a good amount about the genetic role in pharmacy and pharmacotherapy. Do you think that genetic testing, especially in cancer, should be pushed for more? Does this testing actually benefit patients or just get them worried and thinking more? I think genetic testing is a great tool for health professionals to have and we should use it to our advantage as much as possible. The problem is, however, getting the public on board with it. What is the best way to accomplish that?

JAMA Oncol. Published online February 11, 2016. doi:10.1001/jamaoncol.2015.5941