President's Corner - DNA Banking
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Since the founding of our Company about thirteen years ago, PreventionGenetics has operated a clinical DNA Bank. We define DNA Banking as the long term secure storage of DNA from an individual for the purpose of future clinical DNA testing. Our Bank is still relatively small, but is steadily growing.
The rationale for DNA Banking is difficult to convey even to experienced geneticists. For the audience of this Newsletter, I’ll try my three fact approach.
Fact #1. Interpretation of sequence variants is greatly improved with clinical and sequence information from family members.
This one is really tough for lay people to understand, but human geneticists should not have a big problem. To give just one example, we prefer to sequence trios (both parents and an affected child) in exome tests because then we can detect de novo variants and compound heterozygous variants in trans and can depreciate many dominant uncertain variants (because they are found in one of the unaffected parents). With an exome sequence of just the child, there is a much lower chance of reaching a definitive diagnosis.
Fact #2. When a person is buried or cremated, it is difficult or impossible to obtain a suitable DNA specimen.
Fact #3. When properly extracted and stored, DNA is stable for at least centuries.
These three facts together make a truly compelling case for DNA Banking. Banking is not something you do for yourself, but rather for your family. DNA Banking has similarities to a will, but is far simpler and much less expensive.
As our Bank deposits have grown, the number of withdrawals, although lagging deposits, has also grown. Essentially all of our withdrawals are for testing of deceased individuals. We recently asked some of the close family members of these deceased individuals to provide testimonials about the importance of DNA Banking. We were struck by the responses. These may be found here on our DNA Banking web site in the individual’s own words.
Although we hope to someday, PreventionGenetics has not yet made a profit on DNA Banking. We provide Banking because it’s an important service for the families we serve.
I hope all of you will carefully consider DNA Banking for yourselves and family members. DNA Banking makes a wonderful gift. Happy Holidays from PreventionGenetics.
-James L. Weber, PhD
Founder & President, PreventionGenetics