Genetic testing for cancer should be the norm now, experts say. Here’s when to request it. – San Diego Union-Tribune

Genetic Testing for Cancer: A Powerful Tool for Prevention and Treatment

Genetic testing for cancer is increasingly becoming an essential component of cancer prevention and treatment strategies, yet remains significantly underutilized. Only about 6.8% of cancer patients undergo genetic testing despite recommendations from medical experts, according to a study reported by the National Cancer Institute in 2023.

What is genetic testing for cancer?

Genetic testing looks for specific inherited changes or mutations in a person's genes that may increase the risk of developing certain types of cancer. While most cancers are not inherited, about 5-10% of all cancers are thought to be caused by harmful genetic changes passed down from parents.

"Genetic testing is now absolutely essential to cancer treatment and prevention," said Allison Kurian, a professor at Stanford Medicine and director of the Stanford Women's Clinical Cancer Genetics Program. "It's underused, and I think it's important for people to talk with their doctors and to talk with their families about it."

Unlike genetic testing of tumor cells (sometimes called somatic testing), which examines mutations that developed during a person's lifetime, inherited cancer risk testing looks specifically for mutations present from birth that could increase cancer susceptibility.

Who should consider genetic testing?

Medical guidelines recommend genetic testing for people with:

• A personal history of cancer diagnosed at a young age (typically before 50)
• Multiple types of cancer in the same person
• Several close relatives with the same type of cancer
• Family members with specific cancer combinations (like breast and ovarian cancer)
• Rare cancers (such as male breast cancer or retinoblastoma)
• Specific racial or ethnic backgrounds with higher risk of certain mutations (like Ashkenazi Jewish ancestry)
• A known genetic mutation in family members who have already been tested

Additionally, clinical practice guidelines specifically recommend genetic testing for anyone diagnosed with triple-negative breast cancer, ovarian cancer, pancreatic cancer, colorectal cancer before age 50, metastatic prostate cancer, or male breast cancer.

"The best person to test first, if feasible, is the family member with cancer," explains Sara Wofford, a genetic counselor. This approach, called cascade testing, allows other family members to be tested if a mutation is found.

How is testing performed?

Genetic testing is typically performed using a blood or saliva sample, with results usually available within 2-3 weeks. The process should include:

1. Consultation with a genetic counselor before testing
2. Discussion of personal and family medical history
3. Assessment of the likelihood of an inherited cancer risk
4. Explanation of available testing options and their implications
5. Written informed consent before proceeding

Most testing is ordered by genetic counselors or oncologists, though primary care physicians may also make referrals. Insurance typically covers genetic testing when it meets clinical guidelines, though coverage varies.

Understanding test results

Genetic test results fall into three main categories:

1. Positive result: A harmful genetic change that increases cancer risk was identified. This may:

   • Confirm that a current cancer was likely inherited
   • Guide treatment choices
   • Indicate increased risk for developing certain cancers
   • Inform prevention and screening plans
   • Provide important information for family members

2. Negative result: No harmful genetic changes were found in the genes tested. This is most meaningful when there's a known mutation in the family that wasn't found in the person tested (a "true negative").

3. Variant of uncertain significance (VUS): A genetic change was found, but there isn't enough data to know whether it increases cancer risk. Most VUS results are eventually classified as benign, but follow-up with providers is important.

Taking action based on results

If testing reveals an inherited mutation, a person can work with healthcare providers to develop a personalized plan that may include:

• Earlier or more frequent cancer screenings
• Medications to reduce cancer risk
• Preventive surgeries in cases of very high risk
• Lifestyle modifications
• Specialized treatment approaches if cancer has been diagnosed

"There's a whole universe of positive results," says Wofford. "We will be there to walk you through the emotions and help you reconcile what we've discovered."

At-home testing limitations

While direct-to-consumer genetic tests are increasingly available, experts caution that they have significant limitations for cancer risk assessment. Most at-home tests examine only a small number of possible mutations and may not provide the comprehensive analysis needed for clinical decision-making.

The FDA has approved only one direct-to-consumer test for cancer risk, which looks for three specific BRCA gene variants common in people of Ashkenazi Jewish descent. However, this test misses approximately 80% of cancer-causing BRCA variants.

The future of genetic testing

Research continues to improve genetic testing capabilities, identifying new cancer-related mutations and clarifying the risks associated with existing ones. The Cancer Moonshot initiative has made expanding access to genetic testing a major goal, recognizing its potential to transform cancer prevention and treatment.

For those concerned about cancer risk, experts recommend speaking with healthcare providers about personal and family history to determine if genetic counseling and testing might be beneficial.

"At this time, mainstream medical guidelines still focus on people who are most likely to have a genetic risk for cancer," says Julie Mak, a genetic counselor at UCSF. "But the guidelines keep including more people, and some experts in the field have advocated for everyone to be offered this type of testing."

As genetic testing technology advances and becomes more accessible, it may increasingly become a standard component of cancer prevention and care for a broader population.

The Potential Downside of Genetic Testing 

How Genetic Testing for Cancer Can Impact Health and Life Insurance

Genetic testing for cancer raises important questions about insurance implications. While health insurance protections exist, other types of insurance like life, disability, and long-term care may be affected by test results. Here's what you should know:

Health Insurance Protections

In the United States, the Genetic Information Nondiscrimination Act (GINA) of 2008 provides significant protections for health insurance specifically:

• Health insurance companies cannot use genetic information to make decisions about your eligibility or premiums
• They cannot consider genetic test results as pre-existing conditions
• They cannot require you to undergo genetic testing as a condition for coverage

This means that if you undergo genetic testing and discover you have a BRCA mutation that increases your breast cancer risk, for example, your health insurance company cannot raise your rates or deny you coverage based on this information.

Important Limitations to GINA

However, GINA has notable exceptions:

• It does not apply to life insurance, disability insurance, or long-term care insurance
• It does not cover members of the military
• It applies only to group health plans and individual policies, not to federal programs like Medicare or Medicaid (though these have their own regulations)
• Some small employers (with fewer than 15 employees) may be exempt

Life Insurance Implications

Life insurance companies can legally:

• Ask if you've had genetic testing done
• Request access to those results
• Use genetic information to make decisions about coverage and premiums
• Deny coverage based on test results

If you apply for life insurance, you're typically required to disclose any known medical conditions and genetic test results if asked. Failing to disclose this information could be considered fraud and might invalidate your policy.

Strategies to Consider

If you're concerned about insurance implications but want genetic testing:

1. Secure life insurance before testing: Some genetic counselors recommend obtaining life insurance before undergoing genetic testing if you're concerned about future insurability.

2. Check state laws: Some states have enacted stronger genetic privacy laws than the federal GINA. California, for example, has broader protections that extend to life insurance in some cases.

3. Explore anonymous or research testing: Some testing programs offer anonymized testing or research protocols with additional privacy protections.

4. Consider privacy protection options: When discussing results with healthcare providers, you can request that genetic test results be kept in a separate file from your main medical record in some cases.

5. Understand medical necessity: Insurance-covered testing ordered by healthcare providers may have different privacy implications than direct-to-consumer testing.

The Ethical Debate

There's ongoing debate about whether insurers should have access to genetic information:

• Insurance companies argue they need all relevant health information to accurately price risk
• Patient advocates argue that genetic discrimination discourages potentially life-saving testing
• Some countries have banned the use of genetic information by all types of insurers

Making Your Decision

When considering genetic testing, it's advisable to:

• Discuss insurance implications with a genetic counselor before testing
• Review your existing insurance policies
• Consider your future insurance needs
• Understand the specific privacy policies of the testing laboratory
• Weigh the potential medical benefits against possible insurance consequences

The value of knowing your genetic risk factors often outweighs potential insurance concerns, especially if the information could help prevent cancer or detect it early. However, the decision remains highly personal and should be made with full awareness of potential implications.

Protecting Genetic Information Privacy: Laws, Regulations, and Best Practices

Genetic information is among the most sensitive personal data, containing insights about not just your current health status but also potential future conditions and information about your biological relatives. Several mechanisms exist to protect genetic information privacy, though there are still some gaps in coverage.

Federal Legal Protections in the United States

The Genetic Information Nondiscrimination Act (GINA)

Passed in 2008, GINA provides two main protections:

• Prohibits health insurers from using genetic information to make decisions about coverage, rates, or preexisting conditions
• Prevents employers from using genetic information in hiring, firing, promotion, or job assignment decisions
• Forbids requesting or requiring genetic testing as a condition of employment

Health Insurance Portability and Accountability Act (HIPAA)

• Classifies genetic information as protected health information (PHI)
• Requires healthcare providers, health plans, and healthcare clearinghouses to implement safeguards
• Limits how genetic information can be used or disclosed without patient authorization
• Gives patients rights to access their genetic information and receive an accounting of disclosures

The 21st Century Cures Act

• Contains provisions that extend privacy protections to research data
• Includes a Certificate of Confidentiality provision that protects identifiable sensitive research information from forced disclosure

State-Level Protections

Many states have enacted genetic privacy laws that often provide stronger protections than federal laws:

• California's Genetic Information Privacy Act requires express consent for collection, use, and disclosure of genetic data
• Illinois' Genetic Information Privacy Act regulates direct-to-consumer genetic testing companies
• Some states have extended protections to life, disability, and long-term care insurance (which GINA does not cover)

Clinical and Laboratory Safeguards

CLIA Certification

• Clinical Laboratory Improvement Amendments (CLIA) certification is required for labs that perform genetic testing
• Includes standards for quality control, record-keeping, and handling of specimens
• Ensures proper management of genetic information

Informed Consent Processes

• Genetic testing typically requires formal informed consent that explains:
  • What information will be collected
  • How it will be used and stored
  • Who will have access
  • Rights regarding future use of samples

Data Security Measures

• De-identification of genetic information when used for research
• Encryption of genetic data in storage and transmission
• Access controls that limit who can view genetic information
• Audit trails that record who has accessed genetic information

Gaps in Current Protections

Despite existing safeguards, certain areas remain underprotected:

• Direct-to-Consumer Testing: Companies outside the healthcare system may not be subject to HIPAA, creating potential privacy vulnerabilities
• Secondary Use: Genetic data collected for one purpose may later be used for other purposes, sometimes with limited transparency
• Law Enforcement Access: Genetic information may be accessible to law enforcement through court orders, as seen in cases where genealogy databases have been used to identify suspects
• Insurance Discrimination: While GINA prevents discrimination by health insurers, it does not cover life, disability, or long-term care insurance

Best Practices for Individuals

To protect your genetic information privacy:

1. Read the fine print before consenting to genetic testing, paying attention to how your data may be used, shared, or sold
2. Consider anonymized testing options when available
3. Ask about data retention policies and whether you can request destruction of your sample after testing
4. Use providers covered by HIPAA rather than direct-to-consumer tests for health-related genetic testing
5. Inquire about the specific security measures used to protect your data
6. Be cautious about uploading raw genetic data to third-party analysis platforms

Future Directions

As genetic testing becomes more widespread, privacy protections continue to evolve:

• Emerging blockchain technologies for securing genetic data
• Development of international standards for genetic data protection
• Growing recognition of genetic information as a special category of personal data requiring enhanced protections
• Calls for comprehensive federal privacy legislation that would include genetic information

The complex nature of genetic information—being simultaneously personal, familial, and predictive—presents unique privacy challenges that will likely require ongoing refinement of legal and technological protections.

Genetic testing for cancer should be the norm now, experts say. Here’s when to request it. – San Diego Union-Tribune

sandiegouniontribune.com

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By Netana Markovitz

For The Washington Post

Even though a large proportion of cancer patients carry genetic mutations that make them more susceptible to cancer, only a small percentage of them — and their family members — undergo potentially lifesaving genetic testing, doctors and genetic counselors say.

Genetic testing is recommended for those with personal and family histories of several types of cancer as well as for certain patterns in a family history. The testing is not invasive, and many insurance carriers will cover the cost for cancer patients, yet relatively few people take advantage of what can be a powerful prevention and treatment tool for themselves and their relatives.

“Genetic testing is now absolutely essential to cancer treatment and prevention,” said Allison Kurian, a professor at Stanford Medicine and director of the Stanford Women’s Clinical Cancer Genetics Program. “It’s underused, and I think it’s important for people to talk with their doctors and to talk with their families” about it, Kurian added.

The National Cancer Institute reported in 2023 that “only a small percentage of people diagnosed with cancer undergo” what is known as germline testing, which seeks out gene changes passed along from parents to children. In a study involving nearly 1.4 million people who were diagnosed with cancer from 2013 to 2019, only 6.8 percent underwent germ line testing, researchers wrote in JAMA.

A combination of factors probably reduces testing uptake, including disparities in access, lack of physician recommendations for it and limited genetic counseling resources, experts said.

Who should get tested?

The best person to test first, if feasible, is the family member with cancer.

“The idea has been to find a mutation, to the person who has the condition that is caused by it,” Kurian said. If a mutation is found, then relatives can be tested, in a process called cascade testing.

While many people with genetic mutations may never get cancer, these mutations, if found, confer a higher risk of disease. The implications depend on the specific mutation found.

For example, BRCA gene carriers have a significantly higher risk of several cancers, such as breast, ovarian, pancreatic and prostate cancers. In addition to added screening tests, doctors may suggest considering risk-reducing surgeries and medications. For patients with the BRCA gene who already have cancer, it may influence the type of therapy they receive.

Should I get tested?

People with strong family histories of cancer should feel empowered to seek out testing, regardless of whether a family member with cancer has already been tested, experts said. As a rule of thumb, the closer the relation in the family, the greater the chance you might share a genetic risk. The field is also changing quickly, which means new risk genes are being discovered.

“At this time, mainstream medical guidelines still focus on people who are most likely to have a genetic risk for cancer, which is usually people who have cancer themselves or have a strong family history of cancer, with cancer in multiple relatives and cancer at young ages,” Julie Mak, a genetic counselor and supervisor of the Hereditary Cancer Clinic at the University of California at San Francisco, said via email.

According to Mak, this list is expanding. “The guidelines keep including more people, and some experts in the field have advocated for everyone to be offered this type of testing. … There is a growing argument that cancer genetic testing should be available to more people, maybe everyone who wants it. Right now, there’s still a gap between who we think could benefit from testing and what insurance will cover,” Mak added.

“One of the red flags is a very early age at cancer diagnosis, or multiple cancers in the same person, then interestingly certain kinds of cancers also cluster together in an individual or in families,” said Zsofia Stadler, clinical director of the Clinical Genetics Service and associate attending physician in the Department of Medicine at Memorial Sloan Kettering.

“The same goes for family history, so if there’s a strong family history of early-onset cancers, multiple cancers of the same type or the clustering of certain types [of cancer], those are some of the red flags that we use to demarcate that somebody may be at a higher risk of having an inherited genetic risk for cancer,” she added.

Kurian said people should ask themselves, “Is there cancer in my family? If so, can my relative who had the cancer tell me anything about whether they might have gotten tested? And if not, can my doctor make any recommendations, and where can I find a genetic counselor?”

Why should you get tested?

It’s important to know whether you might carry genetic mutations because it can affect cancer screening recommendations and advice on certain surgical prevention strategies, Kurian said.

“The recommendations from a positive genetic test depend very much on the exact result – which gene and which ‘variant’ or form of the gene — someone has. It’s important to know that some of these results can really significantly change what we recommend in terms of cancer detection and prevention. Others might result in just a small ‘tweak’ to monitoring plans,” Mak wrote.

While medical guidelines frequently change, some of the cancers more commonly associated with risk genes are pancreatic, ovarian, breast, uterine, colon and prostate cancers, according to Stadler, who added that this list is not comprehensive.

The National Comprehensive Cancer Network recommends that all patients with pancreatic adenocarcinoma get genetic testing.

When in doubt, talk with your doctor about your personal and family history of cancer, Kurian said.

Like most medical procedures, there are risks to testing. “For those lower-risk people, we also want to think through the potential costs — not just financial, but also emotional or medical, if they get sent down a road of a lot of extra medical procedures for something kind of minor on their genetic testing,” Mak wrote.

How does testing work?

Generally, testing is ordered by a licensed genetic counselor, but in some cases, it may be ordered by a medical or surgical oncologist.

Testing frequently involves submitting a saliva sample, a cheek swab or a sample of blood. The DNA in the samples is then sequenced by a lab that looks for up to more than 100 gene mutations.

Either an oncologist or a primary care physician may be the one to bring up genetic testing options. But if a physician does not raise the issue, patients should feel empowered to ask whether it’s indicated or for a referral to a genetic counselor, Mak said.

The National Society of Genetic Counselors website also offers guidance on finding genetic counselors.

Is it covered by insurance?

Insurance usually covers genetic testing when it’s guideline-based, but there may be variability and caveats. “Most of the commercial insurances do cover genetic testing if clinical guidelines are met,” Stadler said.

“For people who fall outside of current guidelines, we may run into issues with insurance coverage. That doesn’t mean we can’t do it, but we should be aware that we’re in a transition time where there’s some data to support testing all cancer patients, but the real-life logistics don’t make that easy to implement,” Mak wrote.