According to a study published Monday in the Journal of Clinical Oncology, The current guidelines for genetic testing of breast cancer patients limit the number of women who can get tested. Because of these restrictions, these tests miss as many patients with hereditary cancers as they find.
“Unfortunately, insurance companies pay attention to these guidelines,” said Dr. Peter Beitsch, co-author of the study and a cancer surgeon practicing in Texas. Insurance companies and other payers reimburse genetic testing — or not — based on the guidelines.
It is a type of cancer which develops from breast tissue.
Signs and Symptoms of Breast cancer
Typically the first symptom of breast cancer is lump formation which feels different from the remaining breast tissues. The mammogram is another technique which detects early breast cancer.
According to Wikipedia
indications of breast cancer other than a lump may include thickening different from the other breast tissue, one breast becoming larger or lower, a nipple changing position or shape or becoming inverted, skin puckering or dimpling, a rash on or around a nipple, discharge from nipple/s, constant pain in part of the breast or armpit, and swelling beneath the armpit or around the collarbone. Pain (“mastodynia”) is an unreliable tool in determining the presence or absence of breast cancer, but may be indicative of other breast health issues.
Mammography (also called mastography) is the process of using low-energy X-rays(usually around 30 kVp) to examine the human breast for diagnosis and screening. The goal of mammography is the early detection of breast cancer, typically through detection of characteristic masses or microcalcifications.
For the average woman, the U.S. Preventive Services Task Force recommends (2016) mammography every two years between the ages of 50 and 74, concluding that “the benefit of screening mammography outweighs the harms by at least a moderate amount from age 50 to 74 years and is greatest for women in their 60s”.
Inflammatory breast cancer is a particular type of breast cancer which can pose a substantial diagnostic challenge. Symptoms may resemble a breast inflammation and may include itching, pain, swelling, nipple inversion, warmth and redness throughout the breast, as well as an orange-peel texture to the skin referred to as peau d’orange. As inflammatory breast cancer does not present as a lump there can sometimes be a delay in diagnosis.
Another reported symptom complex of breast cancer is Paget’s disease of the breast. This syndrome presents as skin changes resembling eczema, such as redness, discoloration, or mild flaking of the nipple skin. As Paget’s disease of the breast advances, symptoms may include tingling, itching, increased sensitivity, burning, and pain. There may also be discharge from the nipple. Approximately half of women diagnosed with Paget’s disease of the breast also have a lump in the breast.
Till now some lifestyle factors which are responsible for breast cancer are Obesity and drinking alcohol. Smoking tobacco is also one of the major reasons which contribute to breast cancer.
Genetic susceptibility is also playing a role in most observed cases.
It is seen that approximately 330,000 patients are suffering from breast cancer every year.
Approximately 330,000 patients are diagnosed with breast cancer every year in the United States and of these cases, an estimated 10% are likely due to hereditary causes, according to Beitsch.
Co-founder of TME Breast Care Network, Beitsch also explained The guidelines for the genetic testing of breast cancer patients were established about 20 years ago by the National Comprehensive Cancer Network, a nonprofit alliance of 28 cancer centers dedicated to improving patient care,
“Back then we tested for two genes, BRCA1 and BRCA 2,” said Beitsch. BRCA 1 and BRCA 2 are tumor suppressor genes that everyone has; if a defect or mutation occurs in one or both of these genes, the likelihood of breast cancer is increased.“Genetic testing was incredibly difficult to do and expensive; it cost about $5,000 to just test the two genes,” he explained. The guidelines, then, “originated really as an economic roadblock to try to decrease the overall cost of health care in America,” he said.
Since then it has become known that 11 “major” gene mutations, including BRCA 1 and BRCA 2, can cause breast cancer, while 25 or 30 other genetic variants are also linked to the disease, said Beitsch.
Meanwhile, genetic testing “radically changed. It went from a difficult-to-do, and expensive, test to a quite inexpensive test,” said Beitsch. “The cost dropped from, say, $5,000 for two genes to now we’re doing 80 genes for about $250.”
While the guidelines also evolved, they “got incredibly complicated,” he said: “unusable.”
So a study was done including 959 study participants who were suffering from breast cancer and half of them met the criteria set forth in the National Comprehensive Cancer Network guidelines, the other half who did not. Then results came that 8.65% of the total participants which means 83 women were having breast cancer due to genetic defects. Of these, 45 women met the National Comprehensive Cancer Network’s criteria for testing, while 38 women did not. Ordinarily, then, these 38 women would not have been tested.
Dr. Otis Brawley, a professor in the department of Hematology and Medical Oncology at Emory University School of Medicine, explained that when a patient with a BRCA 1 or BRCA 2 mutation is diagnosed, “We treat them differently from a person with no known mutation.” For example, surgical decisions and the use of chemotherapy might be based on whether a woman has a genetic mutation.
Many women who have breast cancer do not meet the criteria under the current National Comprehensive Cancer Network guidelines, said Beitsch, and this affects their treatment and, potentially, their survival.
“Over the past 20 years we are learning of a number of genes that can have a mutation. Some change our treatment,” said Brawley, who was not involved in the new study. Genetic testing, then, is not only important to a patient’s survival, Beitsch said, “but also for her family members as well.” Genetic testing becomes so important not only for patients but for the female relative to know that she is in danger of having breast cancer or not and male relatives to the risk of prostate and other cancers.
Dr. Len Lichtenfeld, interim chief medical officer of the American Cancer Society, said that “it’s a misconception that men cannot be impacted by BRCA genes and it’s a misconception that they cannot pass them onto their children.”
“There’s no question we don’t test the people we know should be tested,” including some patients with a “family history that has cancer written all over it. Unfortunately, too many professionals don’t pay attention,” said Lichtenfeld, who did not contribute to the new research. One study, for example, suggests that fewer than one in five people who meet National Cancer Comprehensive Network criteria and have a history of breast cancer have actually undergone genetic testing. “Then there’s the group of people without a family history who want to get tested,” he said.
According to a survey conducted in 2016, about 56% women are interested to take the genetic test which will be able to indicate the chances of developing cancer in their life and 63% said that they would take a cancer predicting test.
Despite public interest and increasing knowledge of potential causes of cancer, insurance plans do not routinely cover the expense of medical genetic testing, said Lichtenfeld. And barriers exist even for those who most need to know the results of such tests, such as some women who have been diagnosed with breast cancer, he said: “Once [a woman] is diagnosed, unless she has a family history, a lot of payers, including Medicare, will not pay for the test.”
Since genetic tests are now relatively inexpensive, the reason for creating an “economic roadblock” no longer exists, Beitsch said, and so the guidelines should “be wiped.”
“The guidelines really don’t help — in fact, they hurt, they injure, they keep people who could benefit from genetic testing from getting it,” said Beitsch, who hopes the National Comprehensive Cancer Network will recognize his study “and take heed of it and hopefully change the guidelines.”
Lichtenfeld said cancer centers “are finding many more people who have a hereditary basis for their cancer than would have been suspected based on our previous knowledge.” Since the human genome was first sequenced in 2003, scientists have become increasingly adept at reading the mysterious code and what “we don’t understand today, we will understand tomorrow or next year or in the next decade,” said Lichtenfeld. He believes that soon, genetic testing will be routine for newborns.
Beitsch conducting his research and gives a hope that all breast cancer patients will undergo genetic test and all the people will be able to go for the genetic test as everybody cannot afford the test.
Based on his new research, Beitsch cherishes a more modest hope that at the very least all breast cancer patients will be offered and reimbursed for genetic testing, and perhaps, the same for all cancer patients.
“We’re heading toward a time when all people are tested,” he said. “Mary-Claire King, who discovered the BRCA 1 and 2 genes, has called for that.”