Nearly 12,000 women could be living with undiagnosed breast cancer due to pandemic

Health

Daily Mail 05 October, 2021 - 02:15am 30 views

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“I just thought, ‘I’m dead.’ This was July 2020 and they wouldn’t speak to me virtually. I just knew it was going to be bad,” said Forsythe-Stephens, who was 37 at the time and the mother of two children. She agreed to testing at her doctor’s urging after disclosing that her paternal aunt was diagnosed with breast cancer at age 49.

Five days later, she learned that she tested positive for CHEK2, a gene mutation linked to breast cancer in women. As the editor of a health care magazine, Forsythe-Stephens considered herself well-informed about the cancer risks surrounding BRCA1 and BRCA2 gene mutations, however, “CHEK2 was never discussed,” she said.

Based on her variant of CHEK2 — 1100delC, the most common and aggressive — and family history, Forsythe-Stephens opted to undergo a prophylactic mastectomy three months later. “My OB told me that wasn’t my only choice. I could rotate breast MRI and mammograms every six months, but she told me that, based on my variant and family history, if I wanted to be around for my two kids, it’s the decision I should make. I never hesitated. As soon as I heard that my breasts could kill me, I wanted them off. They felt like a ticking time bomb.”

The post-mastectomy pathology report showed HER2-positive cancer cells, which tend to be aggressive and fast-growing. “My aunt’s cancer was also HER2-positive but she didn’t learn she has CHEK2 until after I did — she was only tested for BRCA before.”

Today, Forsythe-Stephens credits her OB-GYN with saving her life. “I know I would have developed breast cancer. The question is whether that happened after I was 40 and started having mammograms or earlier.”

CHEK2 serves the body as a tumor suppressor, but when it's mutated, it can be linked to numerous cancers. It is considered a more moderate-risk gene mutation.

Today, most people have likely heard of BRCA1, BRCA2 and PALB2 for good reason — they confer a much higher risk of developing breast cancer. Up to 10% of breast cancers are hereditary, harmful BRCA1 and BRCA2 variants are found in 3%-4%; and 1%-2% of those are linked to CHEK2, noted Beth N. Peshkin, the director of genetic counseling at Georgetown Lombardi Comprehensive Cancer Center in Washington, D.C.

In total, there are 11 breast cancer predisposition genes with BRCA1 and BRCA2 carrying the highest risk.

Yet, more moderate-risk gene mutations that confer a 20%-30% lifetime risk, on average, have become more controversial as different studies have reported various findings, said Tung. "In terms of breast cancer, (the moderate-risk genes) are ATM and CHEK2, and the rest we're not so sure about," she said.

"CHEK2 is on people's radar and it's coming on people's radar," said Dr. Judy Garber, an oncologist and the chief of the division for cancer genetics and prevention at Dana Farber Cancer Institute in Boston.

Women carrying the CHEK2 mutation have a moderate risk for developing breast cancer, ranging from 23%-48% depending on their variant and family history, according to Sara Pirzadeh-Miller, assistant director of UT Southwestern Harold C. Simmons Comprehensive Cancer Center.

Meanwhile, men with CHEK2 have an increased risk of developing prostate cancer.

Just days after Forsythe-Stephens learned she carried the CHEK2 mutation — which her children stand a 50% chance of inheriting — her father was diagnosed with stage 3 prostate cancer and later learned that he too carries CHEK2.

“Really hardly any of the cancer genes predisposes to only one cancer, and several of them … may have implications for the other gender.”

“(Some) women don't realize that a family history of prostate cancer could have implications for them, if the same genes could be involved,” explained Garber. “And then men may think that familial breast cancer is not their problem. It's a woman's problem. Really hardly any of the cancer genes predisposes to only one cancer, and several of them, even the ones you associate with the most sex-specific conditions like prostate cancer or breast cancer or ovarian cancer, may have implications for the other gender.”

Dr. Alison Barron of Texas Breast Specialists similarly noted, “I myself am seeing more and more CHEK2 patients who randomly had genetic testing because of a remote family cancer that’s not breast related.”

In addition to breast and prostate cancers, some experts believe CHEK2 may have a possible association to the following cancers to varying degrees: kidney, colon, thyroid and skin.

Dr. Phillip Ley, a Mississippi-based surgical oncologist specializing in breast cancer, discovered he carries CHEK2’s 1100delC variant after being diagnosed with stage 1 kidney cancer. “(My variant is present in) 0.1% to 0.2% of people of Northern European descent,” Ley explained. “Think about how many people that is. That’s 1 in 1,000. That’s fairly ubiquitous.” In his family, one of his two daughters carries the gene mutation, as well as his brother. His father was diagnosed with prostate cancer at 72.

In addition to breast and prostate cancers, some experts believe CHEK2 may have a possible association to the following cancers to varying degrees: kidney, colon, thyroid and skin. Suggested preventative screenings for these, such as increasing the frequency of colonoscopies to every three to five years, should be discussed with medical professionals on a case-by-case basis.

“It’s important to emphasize that while patients with different cancer types may have been found to have a mutation in CHEK2, that does not necessarily mean their cancer was driven by that mutation. This is due to the fact that CHEK2 is considered to be a medium-risk gene, and can be an incidental finding,” said Dr. Alicia Latham, assistant attending physician and medical geneticist at Memorial Sloan Kettering Cancer Center in New York City. “It is also important to remember that our knowledge about CHEK2 and its associated cancers may continue to be refined over time as more people have genetic testing and more data is accumulated.”

Emily Przybyla, of Keller, Texas, was in her mid-30s and had never had cancer — though many close relatives did — when she learned that she carries the CHEK2 mutation. “At the time I was an employee of Texas Oncology. (After) talking with a nurse practitioner there regarding my family history of many types of cancers, she suggested I have the testing. It is a fairly simple process.”

Now, at 40, her screenings include yearly diagnostic mammograms plus monthly breast exams, annual skin checks with a dermatologist and a colonoscopy every three years. “Managing and screening is easy. It’s fighting cancer that is not,” said the mother of two daughters. “I would rather get a colonoscopy every three years and have polyps removed (than have) colon cancer, or go to a mammogram yearly than fight breast cancer. I stay on top of my health because I want to be around for a long time to see my kids grow up.”

While organizations’ guidelines for determining who should seek genetic testing may differ, criteria doctors may consider include a family history of cancers and ages at onset, a patient’s age at diagnosis, as well as the type of cancer. “My own opinion is that everyone should be informed about it and make their own decision,” Euhus said.

Euhus offers testing for all breast cancer predisposition genes to all of his breast cancer patients. Sites like Color and Invitae also offer convenient and affordable genetic testing options, with panels searching for numerous mutations costing approximately $100-$300 or less if billed through insurance.

“If a person has not had cancer — but has a strong family history, especially in close relatives — the patient, or if possible, their relatives with cancer histories should consider genetic testing,” said Peshkin, who also emphasized the importance of consulting a genetic counselor both before and after testing as variants and family history play a critical role in accessing risk.

We are lucky to live in a time when we can be proactive, rather than reactive, with our health."

“(Counselors can) help patients make informed decisions, ensure they receive appropriate and up-to-date recommendations, educate them about risks to relatives, and provide support.”

Patients can also follow up with counselors every few years to inquire about advancement in testing that relates to them.

The National Society of Genetic Counselors’ website provides a directory for finding genetic counselors, with both in-person and virtual appointment options. Prior to genetic testing, your counselor should address how discovering a hereditary mutation can affect your eligibility for life insurance, disability insurance and long-term care insurance. “The federal law, GINA, the Genetic Information Nondiscrimination Act of 2008, does not protect against denial of insurance in these markets. However, many states have enacted additional protections,” Peshkin explained. “It appears that discrimination in these insurance markets due solely to a hereditary cancer risk is rare. Nevertheless, it is important to investigate these protections prior to being tested.”

“CHEK2 is a little bit complicated,” explained Garber. “It doesn’t confer as high a risk (as BRCA1 or BRCA2) — and that’s a good thing. … When you have a gene that gives less risk, you have to be more balanced thinking about how do you manage this?”

Garber stressed that guidance is evolving regarding CHEK2 management, but newer guidelines suggest that doctors shouldn’t start (screening) until 40, though every patient is different.

“The problem is the false positives that lead to more imaging tests, more biopsies and sometimes unnecessary surgery. That is why you really need to reach a certain risk level before you start recommending screening,” Euhus explained.

Women with a high-risk variant plus a strong family history may consider a prophylactic mastectomy. “That’s a very individual decision,” Garber said. “We would hope that for the majority of women there are other ways to manage the risk like careful monitoring and maybe medication to lower risk.”

Monitoring may include rotating breast MRIs and mammograms every six months. “It is reasonable to consider taking tamoxifen or another anti-estrogen medicine to reduce your breast cancer risk if you are a CHEK2 carrier,” Euhus added.

"I don't think individuals should be fearful of genetic testing," stressed Tung. "We should do it when it's appropriate, and we should see it as empowering, but we should use our genetic experts, when there is a finding, to make sure that it's interpreted properly, and so that proper recommendations can be made."

It’s been nearly a year since Forsythe-Stephens’ prophylactic mastectomy last October and she has no regrets about her decision.

“We are lucky to live in a time when we can be proactive, rather than reactive, with our health. Make informed decisions and talk to your doctor about your risk level based on your particular variant and family history. ... Knowledge is power — so make the best decision for you and your family.”

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At-home genetic testing for cancer risk is booming: Should you try it?

msnNOW 05 October, 2021 - 04:20am

Breast Cancer Awareness Month will cause many women to worry about their hereditary risk for developing the disease, especially if it runs in their family.

Genetic testing can answer that piece of the puzzle for breast and many other types of cancer, as well as a variety of diseases. It used to be costly, and require doctor’s orders and appointments. But anyone can now buy a fairly inexpensive DNA testing kit online and receive some answers without leaving home as part of a growing industry known as direct-to-consumer genetic testing.

It usually means providing a saliva sample and sending it back to the company for lab analysis, with the results accessible via a secure online portal or sent in a letter. Depending on the company, a physician doesn’t necessarily have to be involved to order the kit or get the findings.

Proponents say it democratizes the process, giving people more access to their genetic information and allowing them to take action to protect their health. But experts also worry about the tests’ validity and false reassurance, and a general lack of understanding about how much they can reveal.

“Whenever a person is interested in their genetic background as it relates to health risk, it's a good thing. And if they pursue these direct-to-consumer tests, it's fine,” Leigha Senter, associate professor of human genetics at The Ohio State University College of Medicine and a licensed genetic counselor, told TODAY.

“People should take the extra steps, though, to make sure that their health care providers are aware of their results and that they understand the limitations that come along with doing a direct-to-consumer test because they're often not as comprehensive as the kind of cancer risk-related test that we might do in clinic.”

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The market keeps growing. Here’s a brief sample of companies offering at-home genetic health testing:

23andMe: The company’s home DNA tests look at genetic risks for Parkinson's disease, late-onset Alzheimer’s disease, celiac disease and some rare blood diseases. There’s also a test to check three variants of the BRCA1/BRCA2 genes most common in people of Ashkenazi Jewish descent, which indicate an increased risk of developing breast and ovarian cancer. However, these are not the most common BRCA1/BRCA2 mutations in the general population. 23andMe is the only company on the list of direct-to-consumer tests to have received marketing authorization by the U.S. Food and Drug Administration. A Health Service kit costs $99 and can be bought directly from the company’s website or on Amazon.com.

The company recommends talking with a genetic counselor before and after testing.

Invitae: This San Francisco-based company offers a test that looks at 61 genes associated with common cancers, including breast, ovarian and prostate; a screen that tests 77 genes related to inherited heart disease; plus a combination of the two. The tests are medical-grade, the company says. After a person requests a test online, the company says an independent clinician will review and approve the order. Tests begin at $250. Customers talk to a genetic counselor at no extra cost if they’d like.

Color: All tests are ordered by a doctor, either the customer’s own physician or an independent doctor who will review the information. The company says it focuses on “thorough sequencing of genes” with clinical-grade tests. Customers receive an analysis of genes associated with hereditary forms of heart disease; hereditary cancer risk for breast, ovarian, uterine, colon, melanoma, pancreatic, stomach and prostate cancers; and genes associated that impact how the body processes certain medications. The test costs $249. The cost includes phone calls with Color’s in-house genetic counselors.

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If your ancestry is 100% Ashkenazi Jewish, having a negative test result for the most common breast cancer-related mutations from a test like 23andMe will significantly reduce the likelihood that you have a hereditary predisposition, Senter said. But it still doesn't rule it out.

There are a lot of factors that contribute to a person's risk for cancer: Age, gender, hormonal and reproductive factors, diet and exercise, said Tanya Eble, manager of the adult genetics service at Baylor College of Medicine in Houston, Texas, and a certified genetic counselor.

“So someone’s risk to develop cancer isn't as black and white as just a genetic test result in itself,” she noted.

When it comes to breast cancer, only about 5% to 10% of cases are thought to be hereditary, according to the American Cancer Society.

If you're truly concerned about your risk and have a family history, a clinically validated test would be the best option, Senter advised. Having a conversation with your doctor before proceeding can be helpful to find out what testing is most appropriate.

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The FDA urges consumers to consider discussing their at-home test results with a genetic counselor or a doctor to better understand what they mean to their health.

For example, a woman with a family history of breast cancer might take the DTC test looking at three specific variants of the BRCA1/BRCA2 genes most common in people of Ashkenazi Jewish descent and feel reassured by a negative result.

“But there are more than 1,000 BRCA variants with some clinical significance, so that's a very small part of what that test is looking at,” Eble said.

“Likewise, there are other genes that can be associated with a predisposition to breast or other cancers. And if you're only looking at those three mutations in BRCA 1 and BRCA 2, you're obviously not even considering those other genes that might be playing a role in an individual cancer risk.”

Without explanation from a doctor or genetic counselor, people with a negative result may think they’ll never get cancer, or be convinced they can now skip mammograms and other routine screening, said Karen Grinzaid, assistant professor of human genetics at Emory University School of Medicine in Atlanta. She’s the executive director for JScreen, a non-profit based out of the school's department of human genetics. It specializes in screening for more than 200 genetic diseases that are commonly found in both the Jewish and general populations.

JScreen also involves submitting a saliva sample via an at-home kit, but it doesn’t consider itself to be a direct-to-consumer genetic option because it’s medical-grade testing ordered by a doctor, with genetic counseling follow-up, Grinzaid said.

“I think people need to be really careful. If a person’s goal is to find out about their hereditary cancer risk, they need to do testing in the right way,” she noted.

It’s important to remember the tests on the market are different, have different limitations and test for different things. They might not interpret the data in the same way, so it's possible to get direct-to-consumer genetic testing from two companies and receive two different results, Eble cautioned.

“There can be false positives that can lead to anxiety,” she said. “Patients need to be aware that receiving a positive result can be a good jumping off point to start the conversation with their doctor, but alone, they shouldn't be used to make medical management decisions.”

Depending on the at-home kit that you used, it may be necessary to confirm your result in a clinical lab, Senter added.

The National Society of Genetic Counselors cautions that only clinical-grade testing interpreted by health care professionals with genetics expertise should be used to make decisions about preventive care, diagnosis or treatment.

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Before sending off your saliva for analysis, look into the company’s privacy policy and how your information will be used. You might ask: Does the company own the data? Would my information be available to be used in a criminal case? Will it be sold for research purposes?

Direct-to-consumer testing isn't covered by the Health Insurance Portability and Accountability Act (HIPAA), Eble said.

The Genetic Information Nondiscrimination Act of 2008, which prohibits genetic discrimination in health insurance and employment, doesn’t offer such protection for other types of insurance, such as life, long-term or disability insurance, she added.

“Those companies can ask if you've had any genetic testing. They can ask what your results are and they might use that information when they're determining whether they’ll cover you and what your out-of-pocket expense for insurance might be,” Eble noted.

“These are things that people might not necessarily be thinking about if they're doing a test… (but) there's a lot to think about, and that's why I urge patients to talk to their health care provider.”

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At-home genetic testing for cancer risk is booming: Should you try it?

WKRG 05 October, 2021 - 04:20am

Breast Cancer Awareness Month will cause many women to worry about their hereditary risk for developing the disease, especially if it runs in their family.

Genetic testing can answer that piece of the puzzle for breast and many other types of cancer, as well as a variety of diseases. It used to be costly, and require doctor’s orders and appointments. But anyone can now buy a fairly inexpensive DNA testing kit online and receive some answers without leaving home as part of a growing industry known as direct-to-consumer genetic testing.

It usually means providing a saliva sample and sending it back to the company for lab analysis, with the results accessible via a secure online portal or sent in a letter. Depending on the company, a physician doesn’t necessarily have to be involved to order the kit or get the findings.

Proponents say it democratizes the process, giving people more access to their genetic information and allowing them to take action to protect their health. But experts also worry about the tests’ validity and false reassurance, and a general lack of understanding about how much they can reveal.

“Whenever a person is interested in their genetic background as it relates to health risk, it's a good thing. And if they pursue these direct-to-consumer tests, it's fine,” Leigha Senter, associate professor of human genetics at The Ohio State University College of Medicine and a licensed genetic counselor, told TODAY.

“People should take the extra steps, though, to make sure that their health care providers are aware of their results and that they understand the limitations that come along with doing a direct-to-consumer test because they're often not as comprehensive as the kind of cancer risk-related test that we might do in clinic.”

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The market keeps growing. Here’s a brief sample of companies offering at-home genetic health testing:

23andMe: The company’s home DNA tests look at genetic risks for Parkinson's disease, late-onset Alzheimer’s disease, celiac disease and some rare blood diseases. There’s also a test to check three variants of the BRCA1/BRCA2 genes most common in people of Ashkenazi Jewish descent, which indicate an increased risk of developing breast and ovarian cancer. However, these are not the most common BRCA1/BRCA2 mutations in the general population. 23andMe is the only company on the list of direct-to-consumer tests to have received marketing authorization by the U.S. Food and Drug Administration. A Health Service kit costs $99 and can be bought directly from the company’s website or on Amazon.com.

The company recommends talking with a genetic counselor before and after testing.

Invitae: This San Francisco-based company offers a test that looks at 61 genes associated with common cancers, including breast, ovarian and prostate; a screen that tests 77 genes related to inherited heart disease; plus a combination of the two. The tests are medical-grade, the company says. After a person requests a test online, the company says an independent clinician will review and approve the order. Tests begin at $250. Customers talk to a genetic counselor at no extra cost if they’d like.

Color: All tests are ordered by a doctor, either the customer’s own physician or an independent doctor who will review the information. The company says it focuses on “thorough sequencing of genes” with clinical-grade tests. Customers receive an analysis of genes associated with hereditary forms of heart disease; hereditary cancer risk for breast, ovarian, uterine, colon, melanoma, pancreatic, stomach and prostate cancers; and genes associated that impact how the body processes certain medications. The test costs $249. The cost includes phone calls with Color’s in-house genetic counselors.

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If your ancestry is 100% Ashkenazi Jewish, having a negative test result for the most common breast cancer-related mutations from a test like 23andMe will significantly reduce the likelihood that you have a hereditary predisposition, Senter said. But it still doesn't rule it out.

There are a lot of factors that contribute to a person's risk for cancer: Age, gender, hormonal and reproductive factors, diet and exercise, said Tanya Eble, manager of the adult genetics service at Baylor College of Medicine in Houston, Texas, and a certified genetic counselor.

“So someone’s risk to develop cancer isn't as black and white as just a genetic test result in itself,” she noted.

When it comes to breast cancer, only about 5% to 10% of cases are thought to be hereditary, according to the American Cancer Society.

If you're truly concerned about your risk and have a family history, a clinically validated test would be the best option, Senter advised. Having a conversation with your doctor before proceeding can be helpful to find out what testing is most appropriate.

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The FDA urges consumers to consider discussing their at-home test results with a genetic counselor or a doctor to better understand what they mean to their health.

For example, a woman with a family history of breast cancer might take the DTC test looking at three specific variants of the BRCA1/BRCA2 genes most common in people of Ashkenazi Jewish descent and feel reassured by a negative result.

“But there are more than 1,000 BRCA variants with some clinical significance, so that's a very small part of what that test is looking at,” Eble said.

“Likewise, there are other genes that can be associated with a predisposition to breast or other cancers. And if you're only looking at those three mutations in BRCA 1 and BRCA 2, you're obviously not even considering those other genes that might be playing a role in an individual cancer risk.”

Without explanation from a doctor or genetic counselor, people with a negative result may think they’ll never get cancer, or be convinced they can now skip mammograms and other routine screening, said Karen Grinzaid, assistant professor of human genetics at Emory University School of Medicine in Atlanta. She’s the executive director for JScreen, a non-profit based out of the school's department of human genetics. It specializes in screening for more than 200 genetic diseases that are commonly found in both the Jewish and general populations.

JScreen also involves submitting a saliva sample via an at-home kit, but it doesn’t consider itself to be a direct-to-consumer genetic option because it’s medical-grade testing ordered by a doctor, with genetic counseling follow-up, Grinzaid said.

“I think people need to be really careful. If a person’s goal is to find out about their hereditary cancer risk, they need to do testing in the right way,” she noted.

It’s important to remember the tests on the market are different, have different limitations and test for different things. They might not interpret the data in the same way, so it's possible to get direct-to-consumer genetic testing from two companies and receive two different results, Eble cautioned.

“There can be false positives that can lead to anxiety,” she said. “Patients need to be aware that receiving a positive result can be a good jumping off point to start the conversation with their doctor, but alone, they shouldn't be used to make medical management decisions.”

Depending on the at-home kit that you used, it may be necessary to confirm your result in a clinical lab, Senter added.

The National Society of Genetic Counselors cautions that only clinical-grade testing interpreted by health care professionals with genetics expertise should be used to make decisions about preventive care, diagnosis or treatment.

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Before sending off your saliva for analysis, look into the company’s privacy policy and how your information will be used. You might ask: Does the company own the data? Would my information be available to be used in a criminal case? Will it be sold for research purposes?

Direct-to-consumer testing isn't covered by the Health Insurance Portability and Accountability Act (HIPAA), Eble said.

The Genetic Information Nondiscrimination Act of 2008, which prohibits genetic discrimination in health insurance and employment, doesn’t offer such protection for other types of insurance, such as life, long-term or disability insurance, she added.

“Those companies can ask if you've had any genetic testing. They can ask what your results are and they might use that information when they're determining whether they’ll cover you and what your out-of-pocket expense for insurance might be,” Eble noted.

“These are things that people might not necessarily be thinking about if they're doing a test… (but) there's a lot to think about, and that's why I urge patients to talk to their health care provider.”

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