Previously we talked about getting our genetic testing done. Running a test in the laboratory is just a part of the process. An even more important part is analysis, reviewing and interpretation of the results before you see them.
Who are the people behind the piece of paper you see once your test is done?
In the USA, American Board of Medical Genetics (ABMG) and American Board of Genetic Counseling (ABGC) certify the geneticists and genetic counselors. Once they are certified they can review the data and work with the patients. The two jobs are different but complementary. While they both know a lot of genetics and paly role in genetic education, advocacy and support of patients, there are some important differences.
Geneticists can but do not have to be medical professionals, who study the inheritance of traits, conduct tests or oversee them, maintain records on protocols and results as well as present the results. They review the results coming from clinical tests. Geneticists, who are medical doctors can also play part in treating of patients.
Genetic counselors, on the other hand, provide the patients with information about the genetic tests, conditions and risks. Their job is really to educate you about the genetic conditions, their causes and how they can affect you. You should talk to a genetic counselor when you consider to do a genetic test and definitely after to have the results explained to you.
An increase in genetic testing, especially using Next Generation Sequencing (NGS) is driving the need for more geneticists and genetic counselors. It is also requiring them to get educated in new analytical methods, understanding of the NGS output and data interpretation. The biggest problem is the amount of data which the geneticists face, compared to traditional tests.
When you are advising someone, who just had their entire genome sequenced, about their risks for genetic diseases you need to know what is the frequency of the rare alleles. Our current knowledge is relatively limited, but with more whole genome sequencing (WGS) projects underway it will grow significantly. This creates the need for maintaining complete databases with all currently known mutations updated with newly identified changes. Also considering that we are analyzing hundreds to thousands of genes, we need accurate automated methods of predicting the consequences of nucleotide substitutions. There will be no more ability to manually look at all the data to check it for accuracy, we will have to trust computerized reporting much more than ever before. It is still a bit unclear how much follow up confirmation will be required to be done after performing WGS for clinical purposes. It is important understand that how great is the move to the NGS or any highly multiplex diagnostic method, it also creates a lot of new challenges.
These challenges will have to be addressed by geneticists, bioinformaticians and clinicians to create satisfactory solutions.
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