Genomics and You: Screening for Women at High Risk (2 of 4)

     There is no question that genetics has become a hot topic in medicine. It seems that every week there is an article about a new genetic test, or another person throwing around the term “inherited risk”. These terms can seem scary at first, but with a bit of brushing up, you can use them to your advantage in managing your healthcare.

      To help along the way, Tigerlily is bringing the basics right to your laptop. We’ve partnered with Genomic Health to offer a 5-part blog explaining the ins and outs of breast cancer genetics and genomics. Read on for more information about inherited risk, the different types of tests offered and how they can help with treatment, and more.


Often, a doctor will run through family history with a patient. In other words, he or she will gather information about medical conditions that the patient’s relatives may have had, in order to see if the patient has a risk of developing those conditions him or herself.

If the doctor determines that there is a risk, screening may be suggested—a way of monitoring a patient for the disease in question, to make sure that it can be caught in plenty of time.

What might screening for breast cancer entail? 

One form of pre-emptive screening a patient may choose to pursue is genetic testing. Genetic testing involves a blood or saliva sample, which is then analyzed in a lab. The DNA from the cells in the sample is checked for certain genetic mutations that are known to be associated with breast cancer. These genes include BRCA1, BRCA2, ATM, CDH1, CHEK2, PALB2, PTEN, and TP53. The results are usually available two to four weeks after the sample is taken. A doctor or genetic counselor is qualified to explain those results and the ways in which they may be used to contribute to treatment or prevention. Tests can range from $300-$5,000, but in some cases will be paid for by insurance.

A woman with a high risk of breast cancer will often have increased medical surveillance as well. A doctor may recommend breast ultrasound, self-breast exams every month, annual breast exams by a physician, an annual breast MRI beginning at age 30 or earlier, or an annual mammogram beginning at age 30 or earlier.

For women who have a genetic mutation that may contribute to breast cancer, screenings may be recommended even more frequently.

In our next post, we will discuss the testing options available to women who have already developed breast cancer, and how genomics can help them to receive the proper treatment.