February 14, 2025
4 min learn
Key takeaways:
- Direct-to-consumer germline testing for most cancers predisposition with out oversight and steering may cause nervousness, monetary misery or different harms.
- Individuals who bear testing ought to obtain genetic counseling.
Genomic most cancers predisposition assessments needs to be accomplished with skilled counseling, and the FDA ought to implement safeguards for direct-to-consumer merchandise, based on a medical oncologist with experience in most cancers genetics.
Wafik S. El-Deiry, MD, PhD, FACP, director of Legorreta Most cancers Middle and affiliate dean of oncologic sciences at Warren Alpert Medical College at Brown College, co-authored an editorial printed in Oncotarget that examined quite a few points with direct-to-consumer genetic testing, They embody psychological and monetary implications, misinterpretation of outcomes, and the potential for information to fall by the cracks.
“This isn’t so simple as simply sending in a check and getting a consequence,” El-Deiry, a Healio | HemOnc Immediately Editorial Board member, mentioned in an interview. “It’s a sophisticated space with implications. It must be managed with cautious oversight to keep away from final harms.”
Background
In 2023, the FDA authorized advertising and marketing authorization for the Invitae Frequent Hereditary Cancers Panel.
The check — which will be bought on to shoppers — evaluates 48 totally different genes related to numerous most cancers varieties, together with breast most cancers, ovarian most cancers, gastric most cancers, Li-Fraumeni Syndrome and extra.
In its approval, the FDA wrote, “Sufferers ought to converse with a well being care skilled, reminiscent of a genetic counselor, to debate any private/household historical past of most cancers, as such data will be useful in deciphering check outcomes. Importantly, this check shouldn’t be meant to determine or consider all identified genes that may present perception into predisposition for most cancers.”
Nevertheless, no oversight exists to make sure people follow-up on these outcomes.
Points with direct-to-consumer testing
El-Deiry outlined a number of points that would come up from direct-to-consumer genomic testing. Lots of them are rooted within the perception that screening the overall inhabitants is pointless, he mentioned.
“It’s mentioned within the subject that your biggest yield is definitely to do the check on the one who’s developed the most cancers,” El-Deiry mentioned. “Then you’ve got a check for all the opposite members of the family.”
If somebody within the common inhabitants orders a check with none danger elements, they may expertise a number of hardships, based on El-Deiry.
They’ll embody nervousness over or misinterpreting the outcomes, or not understanding their implications. Insurance coverage might not cowl the prices, growing monetary stress. Or, an individual may obtain a noteworthy consequence however not relay that data to a well being care skilled, that means will probably be omitted from their medical document.
“A part of what counseling will get at is, do you actually need to know?” El-Deiry mentioned. “And in case you actually need to know, what are the constraints of the check? What’s going to be accomplished concerning the outcomes? There’s additionally interpretation of the outcomes. Specialists within the subject are there due to their experience. There are variants that seem on check outcomes that in 2023 possibly weren’t acknowledged as illness inflicting, however a 12 months [or] 2 years later, there’s extra literature that implicates them and now the importance is totally different. With out being plugged into the well being care system, these fall by the cracks.
“I’ve heard genetic counselors who I respect speak about this kind of factor — that it retains them up at night time worrying concerning the altering data,” he added.
Critics of El-Deiry have instructed him he’s being too “paternalistic.”
“[I’ve been told], ‘You’re interfering with folks’s freedoms and constitutional rights,’” he mentioned. “I disagree that that is paternalistic. I believe there are points that should be addressed by regulators and a few safeguards.”
‘Proceed to evolve’
El-Deiry doesn’t oppose germline testing.
“In fact there are nice advantages in figuring out danger with obtainable assessments,” he mentioned. “If in case you have a cancer-causing allele in your germline that’s been inherited, and you discover out the check result’s detrimental, that’s an enormous reduction. It’s going to influence your life. You don’t should do quite a lot of different medical screenings and interventions totally different from the overall inhabitants, whereas, if it’s optimistic, you actually do.
“Folks must also remember that we don’t know all of the genes that predispose to most cancers within the germline,” he added. “A detrimental check doesn’t imply you don’t have danger for creating most cancers.”
People who have already got most cancers or are at excessive danger for creating most cancers are doubtless already being examined or discussing genomic testing with well being care professionals.
For direct-to-consumer assessments, El-Deiry desires assurances or tips that emphasize the necessity for knowledgeable counseling.
“The priority rises to a stage above merely being really useful,” he mentioned. “I’m not certain that the pitfalls are identified to shoppers.”
Nationwide Complete Most cancers Community (NCCN) launched tips for sufferers concerning genetic testing in January.
The rules describe what genetic testing is and focus on the method, testing standards, prices, influence on household and extra. In addition they suggest following-up with a genetics skilled.
“Whereas the NCCN tips state that ideally a well being care skilled educated in most cancers genetics — in addition to different consultants — might be concerned at every stage, the rules don’t undergo some points with direct-to-consumer assessments,” El-Deiry mentioned. “The rules do suggest that if there’s a optimistic consequence, people ought to focus on these outcomes with a well being care supplier. They do point out that this will likely result in having different assessments reminiscent of a confirmatory genetic check.
“The NCCN tips additional state that extra complete at-home assessments can be found by firms like Invitae and Colour Genomics,” he added. “Whereas these sometimes embody the companies of a genetic counselor, they typically present solely restricted alternative to debate and perceive the importance of a gene check consequence.”
El-Deiry famous another “pitfalls” didn’t get talked about.
“This must proceed to evolve,” he mentioned. “There must be clear steering, particularly in gentle of what may occur, theoretically, even when it’s uncommon. It’s important for anybody who will get these direct-to-consumer assessments to have a transparent path to getting that data into the document, to the eye of the physicians.”
References:
For extra data:
Wafik S. El-Deiry, MD, PhD, FACP, will be reached at [email protected].
