Tennis Star Chris Evert Teaches Us That Genetic Testing Is A Lifetime Match

This weekend, Chris Evert tweeted that she was identified with early-stage (Stage 1C) ovarian most cancers, which is related to an impressive survival rate. This information is very good as a result of most individuals identified with ovarian most cancers are identified at stage III or IV, that are related to poor survival charges.  Aside from the favorable prognosis for Chris Evert, it’s the story behind the story that the medical world ought to be listening to with care.

In February 2020, Chris’s youthful sister, Jeanne Evert Dubin, died of ovarian most cancers at age 62. Earlier than her loss of life, Jeanne had genetic testing, however was not discovered to have a pathogenic, or disease-causing mutation within the BRCA1 or BRCA2 genes and maybe the other genes known to be associated with an increased risk of ovarian cancer (there are numerous such genes – BRCA1 and BRCA2 are solely two of them). Nonetheless, Jeanne was reported to have a “variant of unsure significance” (VUS) in BRCA1.

These of us aware of genetic testing see VUS outcomes ceaselessly. These variants are variations within the genetic code with unsure which means. Once we see a VUS we inform sufferers that they need to not act on that genetic distinction alone, and that their relations shouldn’t be examined for the VUS since we don’t know what it means. As a substitute, medical care ought to be based mostly on medical and household historical past. 

Generally a VUS is later reclassified, or re-categorized, by the laboratory when new information develop into accessible and the which means of the genetic variant is best understood. More often than not, the reclassification of a VUS is a downgrade to a benign consequence. For this reason it’s necessary that healthcare suppliers don’t advise sufferers to behave on VUS or for kin to be examined for it- as a result of a VUS is commonly discovered to be innocent later. However in some circumstances, a VUS is reclassified as pathogenic, or disease-causing. Within the case of Jeanne Evert Dubin, the VUS was reclassified as pathogenic 4 years after her prognosis and roughly twenty months after her loss of life.

Upon reclassification, most labs ship or fax an up to date report back to the doctor who ordered the unique genetic testing. However how typically does the doctor obtain that replace, learn and perceive it, and recontact the household with that new info? What occurs if the affected person has died of her illness within the interim? Does this essential, probably life-saving info attain different relations who may even have the pathogenic variant?  

In Chris Evert’s state of affairs, it did. She apparently realized of the reclassification in late October, was supplied genetic testing, discovered that she had the identical pathogenic genetic variant, and selected to have her uterus and ovaries eliminated ‘preventively’ in December. However when her tissue was despatched to pathology, they discovered that, actually, Chris already had ovarian cancer. Fortunately for her and her household, the tumor was stage 1C, which means that she has a really favorable prognosis.

However is that this the best way genetic testing and variant reclassification typically work?  I might argue that the principle focus of genetic testing to this point has been:

1.     Establish which sufferers are candidates for genetic testing;

2.     Provide them genetic testing (with/with out genetic counseling);

3.     Give them their check outcomes and more than likely by no means converse to them once more.

If/when VUS reclassifications are acquired by many places of work, they could be filed or discarded with out reaching the affected person and household. I concern that in lots of circumstances, if the affected person has died, as Chris’s sister Jeannie had, that consequence could by no means attain the household. On this case, that consequence would possible have resulted in a second tragedy in a single household. And maybe in additional pointless most cancers deaths down the street.

How can we rethink the genetic testing course of? The sphere of genomics is altering on daily basis – so rapidly, actually, that it may be a problem to maintain up, even for these of us immersed in genetics full-time. We have to cease considering of genetic testing as one-and-done, and notice that sufferers, their households, and their clinicians want lifetime entry to digital genetic info that updates over time as the sector, outcomes, testing choices and medical administration suggestions evolve. Chris Evert has proven us that this course of should start now. Tomorrow could also be too late.