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Screening for Breast Cancer by Genetics or Imaging in Community Settings

Op-Med is a collection of original articles contributed by Doximity members.

At SABCS, two industry-sponsored posters discussed the performance of two very different breast cancer (BC) screening technologies in community settings.

Hereditary cancer germline genetic variants are used to inform care, yet differences in their classification are known to occur among commercial testing laboratories. In one poster, classifications from Myriad Genetic’s testing laboratory were used to compare genetic test results from multiple commercial laboratories ordered by a single surgeon at a community-based breast center.

Variants initially reported as a “variant of uncertain significance” (VUS) on hereditary cancer test results ordered from June 2013 to May 2021 were compared. Of 212 variants submitted, 170 were previously observed in Myriad-tested patients. Of these, 48 (28.3%) were discordant. The most frequent discordance involved 40 variants classified as benign/likely benign by Myriad and VUS by other laboratories, which was attributed to the use of Myriad’s laboratory-developed classification tools. 

These observations indicate that even in a single practice, significant discordance in variant classification exists based on the chosen laboratory, indicating a need for further development of accurate tools to evaluate genetic variants.

The second poster reported the performance of Thermalytix, Niramai’s BC screening solution, in a rural, resource-limited setting in India. BC survival rates are low in India due to late-stage presentation, and screening mammography is not feasible. Thermalytix, a portable device, applies artificial intelligence over thermography to give an automated interpretation of the breast thermal images. The device fits in a backpack, and is privacy aware (no-see, no-touch), painless, and radiation-free.

Five thermal images in multiple views each from 3,488 consenting women (median age 42 years), obtained between August 1, 2021 and June 15, 2022, were analyzed. Those classified as positive were referred for further follow-up. 

Of 79 women deemed high risk, 30 received breast ultrasound, 7 of whom were sent for biopsy. Two cases of invasive ductal carcinoma, 1 case each of phyllodes and tuberculosis mastitis, and 8 fibroadenomas were detected, for a positive predictive value of 40% for detecting benign and malignant breast lesions. A patient survey revealed 98.71% were being screened for breast cancer for the first time; 93.9% were very satisfied with the screening experience, and the remaining 6.1% were satisfied.

The total cost including personnel, hardware, and software is $6.50 per person. Follow-up for positive tests remains challenging.

Dr. Lederman has no conflicts of interest to report.

Image by Ponomariova_Maria / GettyImages

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