May 04, 2018
3 min read

Researcher: Criteria for breast cancer genetic testing ‘should be abolished’

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National Comprehensive Cancer Network and Medicare guidelines that determine which patients are qualified to undergo breast cancer risk genetic screening exclude a significant number of high-risk patients, according to two studies presented at The American Society of Breast Surgeons Annual Meeting.

Both studies showed the proportion of patients with genetic mutations did not significantly differ between those who did and did not meet criteria for genetic testing.

Over 275,000 Americans are diagnosed with breast or ovarian cancer each year, with about 5% to 10% of cases being hereditary, according to Jennifer Axilbund, MS, CGC, certified genetic counselor at Johns Hopkins Medicine.

Many organizations, including Medicare and NCCN, have guidelines to determine who is qualified to receive genetic testing to assess for hereditary risk.

“The guidelines were set up to really be an economic roadblock back in the day,” Peter Beitsch, MD, surgeon at Dallas Surgical Group, said during a press briefing at the annual meeting. “They were set up to discover BRCA1 and BRCA2 mutation patients at a certain percentage back when the test was $5,000 per test.”

However, since these guidelines were established, genetic tests have improved to determine mutations in more genes and costs have decreased.

“Economically based guidelines for genetic testing for [patients with breast cancer] are anachronistic [and] miss a significant number of pathogenic variants. We believe they should be abolished immediately,” Beitsch said.


NCCN criteria

Beitsch and colleagues used the Universal Genetic Testing Registry to conduct an initial analysis of 235 patients with breast cancer, of whom 48% met NCCN criteria of genetic testing for breast cancer risk (median age, 60 years) and 52% did not meet criteria (median age, 64.5 years).

Overall, 60.8% of patients had a recent breast cancer diagnosis. Of these, 46.6% met NCCN criteria and 53.3% did not. Of the 11% of patients who had a previous nonbreast cancer, 46.3% met NCCN criteria and 50.3% did not.

Genetic test results showed 12.4% of patients who met criteria had pathogenic/likely pathogenic mutations compared with 11.5% of patients who did not meet criteria, which did not represent a statistically significant difference.

During the press briefing, Beitsch presented updated results from 713 patients — 353 of whom met NCCN criteria and 360 who did not meet criteria. Again, patients who did not meet criteria had similar rates of genetic variants, including actionable mutations (8.6% vs. 10.2%).

“That is not a statistically significant difference,” Beitsch said.

The researchers noted that those who did not meet NCCN guidelines had a different spectrum of pathologic variants than those who met the criteria.



Medicare criteria

In another study, Axilbund and colleagues studied genetic testing results based on Medicare’s criteria.

The analysis included 4,196 consecutive patients with Medicare and genetic screening results, of whom 85% met criteria and 15% did not.

Researchers excluded patients if they used self-pay or had a known pathogenic/likely pathogenic variant in the family.

Among patients with results for BRCA1 and BRCA2 mutations, 3.2% of those who met Medicare’s criteria had mutations compared with 1.9% of those who did not meet criteria.

For patients who underwent large hereditary breast and ovarian cancer panels, those who did not meet Medicare’s criteria for genetic testing had similar rates of mutations (9% vs 10.5%).

“Our recommendation is that testing criteria should be broadened to, at a minimum, include unaffected individuals with a family history and also allow for less severe presentation among affected individuals,” Axilbund said.

Beitsch and colleagues recommend implementing universal genetic testing for women, which would identify more patients harboring pathogenic variants, many of which currently have management guidelines.

“Probably everyone should be genetically tested, and I think in the near future will be,” Beitsch said. “But, at least we can start breaking down these very restrictive-based guidelines for [patients with breast cancer]. When testing was $5,000 per test, I can understand the economic roadblock that was set up, but now that testing is $250, it really makes no sense. You’re harming women by not testing them; the cascade effect of not testing their siblings, their parents and their children is significant.” – by Cassie Homer


Axilbund J. HBOC patients who do not meet Medicare criteria for genetic testing have similar rates of clinically actionable findings as those who do meet criteria. Presented at: The American Society of Breast Surgeons Annual Meeting; May 2-5, 2018; Orlando, Florida.

Beitsch P. Are genetic testing guidelines still relevant? Presented at: The American Society of Breast Surgeons Annual Meeting; May 2-5, 2018; Orlando, Florida.

Disclosures: Axilbund and colleagues report employee and shareholder roles with Invitae Corporation. HemOnc Today could not confirm Beitsch’s disclosures at the time of publication.