By Dr. Earl J. Campazzi, Jr. Civic Association Healthcare Committee Member -- Genetic testing is a rapidly growing medical field which can lead to early cancer diagnosis, detection of rare and common diseases and even assist with the selection of the appropriate medication.
Image: Melissa Berry
For instance, Melissa Berry (see link: I Tested Positive for the BRCA Gene and it Saved My Life), is a five-year breast cancer-free survivor because she knew that she had the BRCA (originally called, “Breast Cancer 1”) gene.
Her knowledge of heightened risk led to frequent mammograms which detected a very small and easily treatable tumor.
Rare diseases are not so rare when you consider all of them together. In fact, according to the British National Health Service, one in 17 patients will suffer from a rare disease. Genetic testing is important in rare disease diagnosis which is otherwise difficult. Misdiagnosis of rare diseases inevitably leads to the wrong treatments, which are not only ineffective but also have side effects.
Dr. Judy Hayward, a primary care physician with expertise in genomics, gives an excellent four-minute presentation on how primary care doctors can integrate genetics to improve their patient care. Her approach is like mine.
Dr Jude Hayward [4:03]
Pharmacogenomics is another field of genetics. Your genetic analysis can help choose the right drug among many for diseases such as in cancer and depression. It also identifies patients who need much higher or lower doses than the standard. In the following link, Kristen Davis details how after trials and tribulations, genetic testing led her to a life-changing anti-depressant. Genetic Testing Saved My Life (Read More PsychCentral)
A new era in medicine began on April 14, 2003, when the entire human genome of a single person, the biological “blueprint”, was sequenced for the first time. The initial genomic sequencing took 13 years and cost $3 billion. Today, whole genome sequencing costs about $1,000 and can be done in a day. Moore’s Law on the table below shows how the cost of genetic testing has fallen much faster than the cost of IT (information technology) during the same time.
What about the 23andMe, AnestryDNA and other direct-to-consumer genetic testing which cost about $100? While the results are often interesting and even insightful, there are significant concerns about the security of this your most personal information (see a link to CNBC article Biggest Risk of Sharing DNA with Consumer Genetic Testing Companies (Read More CNBC).
At present, consumer testing rarely offers results that lead to the improvement of your medical care. Whole genome sequencing is much more detailed and useful than direct to consumer testing. Think of the difference between a home kitchen and a restaurant kitchen.
A National Institutes of Health table shows more than 100 genes that when present suggest specific treatment or the need for more intensive monitoring. The table gives a link to each gene’s details including the disease it can cause or is linked to. The number of actionable genes has increased markedly since this table was made.
Genetics is no longer just a curiosity. It is very much part of clinical practice. Consider asking your physician how genetics might be useful to your health plan and the health of your children and grandchildren. Stay informed so you can take full advantage of this rapidly developing field.