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A study led by researchers at the OSUCCC – James has shown that universal multi-gene panel testing (MGPT) is a practical consideration for patients with newly diagnosed endometrial cancer (EC) for cost savings and improved diagnosis of Lynch syndrome (LS) and other cancer syndromes that predispose to EC.
“The bottom line of this study is that a cost-analysis model showed MGPT offers cost savings plus the benefits of potential better access to the information and better diagnosing of the most common hereditary cancer syndrome, which is Lynch syndrome,” says Monica Levine, MD, a fellow in the Division of Gynecologic Oncology at Ohio State who was first author on a paper about this research recently published in the journal Gynecologic Oncology.
Dr. Levine says MGPT also offers patients who may be cured of EC a chance to prevent recurrence, and she adds that it offers a prevention opportunity for their at-risk relatives as well. In their Gynecologic Oncology paper, the researchers state that EC is the most common gynecologic malignancy in the United States and that approximately 3% of cases are attributable to LS, a disorder caused by a defect in one of the mismatch repair (MMR) genes.
“Identification of LS in patients with EC affords cancer prevention opportunities for patients and their family members,” they write. “The current process for making the diagnosis of LS often involves tumor screening with immunohistochemistry for MMR proteins and reflex MLH1 promoter hypermethylation testing when indicated, followed by confirmatory germline genetic testing in patients with unexplained MMR deficiency in their tumor.”
In this study, the researchers proposed a new algorithm prioritizing MGPT for patients newly diagnosed with EC and compared it to the cost of the current algorithm of universal MMR immunohistochemistry for all EC cases. Per their findings, the MGPT algorithm demonstrated a cost savings of $259 per patient.
“Assuming 66,950 new cases of EC per year, this would represent $17.1 million of cost savings per year,” they continue. “When applied to all new diagnoses of EC in one year, the MGPT algorithm identified 660 (1%) additional cases of LS that would have been missed with the current algorithm. An additional 660 (1%) EC patients with BRCA1 or BRCA2 pathogenic variants would be diagnosed only through implementation of universal MGPT.”
The researchers conclude that, with the increasing integration of genetic information into gynecologic cancer care, “The incorporation of universal germline genetic testing in the upfront setting represents an opportunity to improve access to genetic counseling and testing, and ultimately an avenue to achieve equity and improve the lives of our patients with EC and their families.”
This study followed up on research that was published in 2021 in the journal JCO Precision Oncology about results from a statewide initiative called OPTEC (Ohio Prevention and Treatment of Endometrial Cancer) led by OSUCCC – James investigators. OPTEC has recruited women with EC from partner hospitals across Ohio and screened them for LS and other hereditary conditions that predispose to cancer. Their tumor samples undergo molecular profiling to help clinicians identify targeted treatments based on each patient’s tumor characteristics.
Co-leaders of the OPTEC study are David Cohn, MD, MBA, professor of Obstetrics and Gynecology in the Division of Gynecologic Oncology and interim CEO of the James Cancer Hospital and Solove Research Institute, and Paul Goodfellow, PhD, Faculty Emeritus of Obstetrics and Gynecology in the Division of Gynecologic Oncology. The project has multiple collaborators from Ohio State and Nationwide Children’s Hospital Research Institute.
“The OPTEC study utilized germline MGPT to determine the rate of hereditary cancer syndromes in that population,” says Dr. Levine, who also was first author on the paper published in JCO Precision Oncology. “The strength of the study is in the population: involving patients across Ohio, a standardized method of genetic testing, and testing regardless of previous tumor testing and family history.”
She says the OPTEC study found that 10% of patients had a genetic finding to confirm a cancer-predisposition syndrome, and LS was diagnosed better by direct genetic testing rather than by a stepwise approach using tumor screening, which is still the conventional method.
“Based on this, we conducted the follow-up study earlier this year to model how we shift our practice to do genetic testing rather than tumor testing, and to determine the important things to consider when doing this,” she explains.
