Douglas H Kirkpatrick, MD, is Past President of the American College of Obstetricians and Gynecologists and practices in Denver, Colorado.

Douglas H Kirkpatrick, MD

Henry Lynch has been considered the "father of hereditary cancer" and a pioneer in the study of cancer and genetics. Dr. Lynch received his doctorate degree in human genetics at the 

, Austin, in 1960, while completing medical school there. In 1966, while a professor at 

, he characterized the syndrome and named "Cancer Family Syndrome." Later in 1984, the term Lynch syndrome was coined by other authors, and in 1985, Dr. Lynch named the condition HNPCC (hereditary nonpolyposis colorectal cancer). Since then, the two names have been used interchangeably. Lynch syndrome families are born with a predisposition to develop colorectal, endometrial ovarian, or other cancers. 

For more information on Lynch syndrome: 

Articles

Although the syndrome is named after the "father of hereditary cancer," it hasn't always been referred to as such.

Origins of Lynch Syndrome

A 44 -year-old woman was under the care of an ob/gyn. She had no active medical problems and had 3 children, ages 13, 11, and 9. Her maternal grandmother had died of breast cancer at age 64, and her mother had been treated for ovarian cancer.

Based on her family history, she had undergone yearly mammography for the past 4 years. The mammograms showed increased breast density, but were interpreted as negative for disease. Then, approximately 9 months after her most recent mammogram, she discovered a lump in her left breast. She was diagnosed as having breast cancer; she underwent surgery, radiation therapy, and chemotherapy, but subsequently died of her disease 3 years after diagnosis.

Her spouse filed a medical professional liability (MPL) lawsuit against the patient’s ob/gyn and the radiologist who had interpreted the mammograms, alleging a delay in diagnosis. At trial, the plaintiff ’s expert witness pointed to an anomaly on the patient’s most recent mammogram that was located in the area where the cancer arose and testified that the mammogram had been misinterpreted. He also testified that the physician should have ordered genetic testing to determine if the patient had a BRCA mutation.

The jury found against both physicians and awarded the family $4 million.

	Delay in diagnosis of breast cancer is one of the most common, and most expensive, types of MPL lawsuits. Although most patients who develop breast cancer are over the age of 50, most breast cancer-related lawsuits are filed by women who are younger than 50.

 This apparent paradox is explained by 2 factors. First, the disease is often more aggressive, and therefore, more likely to be fatal, in younger patients. Second, plaintiff’s attorneys prefer cases in which juries are likely to award large sums of money, as commonly happens when a case involves young children who lose a parent. Because the outcome of these lawsuits often hinges on the retrospective analysis of a mammogram, they can be very difficult to defend.

	Although mammography is a useful screening tool, it is far from perfect. Mammographic sensitivity (the rate at which mammography visualizes cancer) is approximately 80% among women with predominately fatty breasts, but only 40% in women who have extremely dense breasts.

 Because dense breast tissue is more common in younger women, mammography is least reliable in the patients who pose the greatest potential risk for an MPL claim. To address this shortcoming, mammography is sometimes supplemented with sonography or magnetic resonance imaging. Although these measures can help in detecting occult cancers, they may also reveal areas of concern that are not cancer, but that necessitate additional imaging studies or biopsy, thereby exposing healthy patients to additional risks.

	Rather than waiting for a cancer to develop and then trying to detect it in time to successfully treat it, a much more effective approach would be to identify those patients who are likely to develop breast cancer and intervene before they do so. This is the promise of genetic testing.

	Although most breast cancers are not related to the BRCA genes, patients who have a pathogenic BRCA mutation have a 50% risk of developing breast cancer by age 50 and an approximate 85% risk of developing breast cancer in their lifetimes.

 In terms of improving patient care and also reducing the risk of lawsuits, it is imperative that these patients be identified. To facilitate this, genetic testing for BRCA mutations is currently recommended by numerous entities, including the American College of Obstetricians and Gynecologists and the National Comprehensive Cancer Network. Because BRCA mutations are relatively rare (affecting approximately 1 out of 400 people in the general population), testing should be limited to patients who have positive family histories.

 The basic criteria are summarized in Table.

In an Ohio case, a 48-year-old woman underwent genetic testing at a local lab, and the result was positive for a BRCA mutation. Believing that she was at high risk of cancer, the patient had her breasts, uterus, and ovaries removed. When the patient’s parents were tested to determine which side of the family carried the mutation, they both tested negative. The patient then underwent repeat testing, and another laboratory determined that she did not have a BRCA mutation, meaning that her surgeries had been unnecessary.

She filed a lawsuit, and the case was settled for $2 million

	Due to the significant variation in test results, and consequent potential for patient harm, the US Food and Drug Administration is contemplating a regulatory structure that would standardize genetic testing. In the interim, the burden is on clinicians to ensure that the laboratories they use are capable of producing accurate results.

	“Failure to Diagnose” genetic mutations that predispose patients to developing cancer are poised to become the next wave of MPL lawsuits. To limit the financial risk posed by the millions of women who meet the criteria for such testing but have not been tested, MPL companies can educate their insureds about the relevant guidelines, the importance of maintaining a current family history of cancers, and the risks posed by both managed care restrictions and the lack of FDA oversight. This education should target both ob/gyns and primary care physicians, as the latter provide some 20% to 30% of women’s healthcare.

	Law and Medicine has created a complimentary online CME activity, available at 

FDA Approves First Breast Ultrasound Imaging System for Dense Breast Tissue

	3. Antoniou AC, et al. Risk models for familial ovarian and breast cancer. 

	4. Coughlin SS, et al. BRCA1 and BRCA2 gene mutations and risk of breast cancer: Public health perspectives. 

	5. Jane Roe v ABC Corporation and XYZ Hospital. JAS OH Ref. No. 17422WL (Ohio Com. Pl.)

Is this the next wave of medical professional liability lawsuits?

Douglas H Kirkpatrick, MD

Articles

Origins of Lynch Syndrome

Failure to recommend genetic testing in breast cancer