2015 Genetic Testing Trends: Precision Medicine, Breast & Ovarian Cancer, and Home DNA Tests


DNA Genetics TrendsThe year ahead promises to be an exciting one in the field of genetics, and to officially kick it off I’d like to highlight a few trends the National Society of Genetic Counselors is watching. 

Precision Medicine

During his State of the Union address this year, President Obama announced his precision medicine initiatives, and it’s been a whirlwind trying to determine how healthcare can benefit.  Precision medicine, also known as personalized medicine, is a customized way of selecting tests and making medical decisions tailored to the individual patient.  The model holds great promise for identifying causes of health problems and creating opportunities to find new cures.  As healthcare consumers, all of us need to participate in this discussion so we understand how to best use this powerful information in our own decision-making.

Precision medicine already showed some promise at the end of 2014 with the announcement of a drug that can target the weakness of an ovarian cancer caused by an inherited mutation in either BRCA1 or BRCA2 genes when other chemotherapies were ineffective.  This is a perfect example of how understanding family history, personal history, and genetic testing can benefit an individual patient, as well as future generations. 

You can start the process by learning more about your family history and sharing the information with your doctor.  If you notice patterns of cancer, heart disease, or other illnesses in your family, you might benefit from genetic counseling, which can help clarify your chances of developing one of these conditions, and determine if DNA testing might be of value to you.  Ideally, family history should be discussed with your physician at least once a year because screening recommendations, medical guidelines, and testing options can change over time.  

Genetic Testing for Breast and Ovarian Cancer

Last fall, researchers suggested all women over the age of 30 get tested for the BRCA1 and BRCA2 mutations, which can increase your chance of getting breast cancer or ovarian cancer.  Certainly, there could be benefits, but there are also risks, and at this time NSGC doesn’t recommend testing for all women in this age group. 

If you notice patterns of cancer, heart disease, or other illnesses in your family, you might benefit from genetic counseling, which can help clarify your chances of developing one of these conditions, and determine if DNA testing might be of value to you.

Genetic testing for breast cancer is not for everyone, and we recommend each woman make a decision based on her own situation, and only after learning all she can about her medical options.  It’s important to fully understand what a DNA test can, and cannot, tell you, and how to use this information to make medical decisions, whether you’re considering tests for BRCA1 and BRCA2, or thinking about being tested for any type of genetic disorder.   If you’re considering genetic testing, ask your doctor lots of questions and consider requesting a referral to a genetic counselor before you have any genetic tests.

Home DNA Tests

Direct-to-consumer genetic testing, or at-home DNA testing kits, is another trend we continue to follow.  These tests, which allow consumers to send in a saliva sample for DNA testing, may provide a wealth of information.   But while we encourage people to be their own advocates and seek information about their health, the results of these tests can sometimes provide confusing or unhelpful results.  Without a healthcare provider to explain them or put them into context, the DNA test results are not always useful and could be misinterpreted. In some cases, however, the results can be useful for medical care. Talk to your doctor or a genetic counselor to determine if the DTC test you are interested in pursuing will provide the information you are seeking.

Carefully read the details in the policies for DTC tests prior to submitting a sample.  Ask the following questions when reviewing the materials: 

  • How will the results be communicated? 
  • Who else will have access to these results? 
  • What are the privacy settings? 
  • Will the DNA and personal information be shared with other corporate partners after the sample is submitted?

Be an Informed Consumer

An informed consumer is also an empowered consumer.  Genetic counselors can be an ideal resource to help you navigate the evolving genetic testing landscape and protect your health.  Find a genetic counselor in your area by using NSGC’s “Find a Genetic Counselor” tool.

Joy Larsen Haidle, MS, LGC, is president of the National Society of Genetic Counselors and a genetic counselor at the Humphrey Cancer Center in Minneapolis. 

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