What to Expect When You Visit A Certified Genetic Counselor
Health care providers often refer patients to a certified genetic counselor (CGC) following a diagnosis or in an effort to find causes for ongoing health problems, while others seek out genetic counseling on their own. Patients visiting a CGC may be anxious about their health, but the encounter doesn’t have to be nerve-wracking. Here’s what to expect.
First, you don’t have to go alone. Christin Coffeen, MS, CGC, a licensed certified genetic counselor, said patients are always welcome to bring someone for support. “You can bring somebody from a support group, a friend, a family member or even a religious mentor,” Coffeen said. “Sometimes there is a lot of information to discuss and process, and patients may want someone there with them for support.”
She likes to start by finding out what brought them to her. Patients meeting with a CGC before having a DNA test (pre-test genetic counseling) will be asked questions about their personal and family health history, potentially including a review of their medical records.
“In a cancer setting, for example, the counselor will look at how old is this affected person, do they also have family members with cancer, and if so, what type and at what age?” she said. The genetic counselor will look for clues that indicate whether a DNA test would be helpful, including certain types of cancers clustering together within a family or in an individual. A genetic counselor also will ask about the age of onset for conditions affecting patients and their family members, because the earlier that age, the more suspicious a genetic counselor will be that a person may be genetically predisposed to a particular condition.
As part of the discussion, a genetic counselor also will help patients decide if they want to undergo genetic testing, if indicated. “We do delve into the psychosocial side of things,” Coffeen said. “We talk about why you might or might not want to do testing, what are things you need to think about before the test and how to move forward when you’ve had a particular result.”
One of the most common questions she gets is how the test (or result) will impact a patient’s loved ones. “That’s the thing about a genetic test — unlike many medical tests, you're not just testing you, you're testing your entire family,” Coffeen said. “These tests have implications for your biological relatives, from your parents to your cousins and beyond.” But it’s okay to come alone, too, Coffeen said. Sometimes, patients want to discuss their test and consider their options in private, before opening a discussion with family and friends.
Most patients can expect to meet with their genetic counselor at least once, sometimes more than once if having both pre- and post-testing discussions. After a test, Coffeen said, a genetic counselor can help to put the results into context for the patient, including discussion of potential risks to family members and the risks, benefits and limitations of any potential next steps and offer guidance about treatment and surveillance options based on the results. “Someone with a cancer diagnosis, for example, might have questions with regard to chemotherapy, radiation and surgical options,” Coffeen said.
Following testing, patients and family members also sometimes may feel a false sense of guilt, from a parent who passed on a mutation to siblings who did not end up with a mutation while their brother or sister did, Coffeen said. A genetic counselor will help patients and their family members with these and other feelings that may arise as a result of genetic testing.
The most important thing to expect from a meeting with a genetic counselor is that you’ll find a trusted and knowledgable advisor and advocate to help you understand and navigate the complex issues around a DNA test. That complexity is why DNA testing shouldn't be done in a vacuum, Coffeen said. “The actual test is just the middle part of the conversation.”
When you’re ready to have that conversation, DNA Ally is there to help put you in touch with a genetic counselor.
Genetic Counselors Should Be Regular Part Of DNA Test Protocol
Genetic testing is highly technical and complex. It can have serious, life-changing results for both consumers and their families. That’s why the American College of Medical Genetics and Genomics advises that consumers talk to a certified genetic counselor for help navigating test results as well as understanding the implications of those results and deciding on the next steps.
The ACMG recommends consumers involve a certified genetic counselor even before testing, to advise them on test functionalities and options and facilitate genetic risk assessment, diagnosis and disease management. Consumers also need expert advice to prevent misinterpretation of results and inadequate disease management (or prevention) and follow-up. The ACMG says certified genetic counselors can help consumers understand the ambiguities and limitations of DNA tests in a way that is linguistically and culturally appropriate. In its statement laying out these guidelines, which are designed to guide and protect consumers, the ACMG also cautioned that privacy issues must be addressed before testing. Consumers should know who will have access to their test results, how their data will be protected, whether it will be sold to third parties and what the implications are for any personal or family-related life, long-term care or disability insurance.
Read the whole statement here.
After A Genetic Test, People Need More Than What Primary Care Physicians Can Offer
National Geographic debuted the first direct-to-consumer (DTC) DNA tests in 2005, hoping to trace the history of human migration with The Genographic Project. Researchers expected to sell 1,000 kits over the ensuing few years, but 10,000 were sold the first day.
People clearly have a deep craving to understand their genes, and not just so they can discover their ancestry. More people are taking at-home genetic tests to learn what health secrets might be hidden in their DNA.
Scientists are finding more conditions to test for as sequencing methods have improved and costs have fallen. Researchers estimate more than 75,000 DNA tests are available, with another 10 coming onto the market daily.
That’s created an increasingly complicated landscape for patients and their primary care physicians (PCPs). While at-home DNA kits only test for a a handful of genetic conditions, they are often giving consumers information they aren’t sure what to do with. Most people will turn to their PCP, but too often that person is at a loss for what to do next.
Several studies have determined PCPs lack the necessary training and knowledge about genetics and genomics to advise patients or to use test results in clinical management. Most PCP practices are rarely set up to accommodate the “time-intensive visits that counseling on DTC genetic testing results typically require,” according to a 2018 paper in the American Medical Association Journal of Ethics.
Another issue is that most PCPs receive limited genetics education during medical school training and even less once they enter residency and beyond. Those PCPs might not be prepared to lead a patient through the meaning of test results nor can they address a patient’s needs based on a DTC test result. For example, a BRCA1 and BRCA2 negative result on a DTC test in a patient of non-Ashkenazi Jewish ancestry, who has a strong family history of breast and/or ovarian cancer, should be reviewed with caution and might require more comprehensive genetic testing. Such subtleties are not always known to the PCP.
Experts have recommended for years that the medical community identify strategies to ensure that physicians are knowledgeable about genetics and genomic medicine. The American Medical Association’s Journal of Medical Ethics, as far back as 2009, wondered whether nongeneticists were prepared for the rise of at-home DNA testing. The conclusion: No. Last year, the same journal advised primary-care clinicians to be open to questions from patients, but said most should refer their patients to genetic specialists.
PCPs aren’t alone in being the dark about genetics and genomics. Even specialist physicians can be overwhelmed. An American Cancer Society study in 2017 found 93% of pediatric oncologists preferred to speak to a genetic counselor themselves before disclosing parental mutations that might be passed to offspring.
The shared thread here is the need for genetic counseling whenever a DNA test is taken. For those who take these tests at home, the fastest and easiest way to get that much needed counseling is through a company like DNA Ally, which can immediately connect people with genetic counselors. DNA tests can teach people so much about themselves, but they have to listen to the right teachers.
Why Aren’t DNA Tests Part Of Regular Medical Care?
Precision medicine is the idea that using a patient’s sequenced genome, doctors can tailor medical treatment to that person’s specific genetic instruction book. But to truly get to that world, DNA testing would have to become much more routine. So what’s holding us back? An article from the World Economic Forum points to four main culprits: doctors having limited expertise in genetics, a lack of genetic counselors, workflow issues and insurance not paying for genetic tests.
To learn more, you can read the whole article here.
Study Shows Primary Care Physicians Don't Know Enough About Genetic Testing
Most primary care physicians (PCPs) receive some genetics education during medical school. But a survey of 488 PCPs in New York City found they considered the training inadequate to assist patients at high risk for genetic conditions. They also said they lacked the training to confidently interpret DNA test results. Researchers concluded this training deficit will become a growing problem now that DNA testing is more affordable.
Read more here.
By the end of next year, roughly 100 million people will have taken an at-home DNA test, according to MIT Technology Review. That’s more than the combined populations of Texas, California and Florida. These at-home genetic tests will be one of the most popular gifts of this holiday season, just as they’ve been in recent years. By simply spitting into a tube and sending it off to a lab, people will unlock the mysteries inside their genes. They’ll learn where their family is from, whether they’re genetically predisposed to hate cilantro, and frequently, whether they are at risk of serious diseases.
For the people who opt in to the health portion of these tests, their results can leave them with more questions than answers: If test results show they have the e4 variant on their APOE gene, which indicates an increased risk of late-onset Alzheimer’s disease, does that guarantee they’ll get the dreaded disease? How late is late? And if the variant doesn’t show up, does it mean they’re in the clear for Alzheimer’s?
All at-home genetic testing comes with tutorials, FAQs and links to more information. But these only go so far when it comes to helping consumers understand their results. What people need in that moment is not more videos and tutorials; they need a knowledgeable human voice. They need an expert trained in genetics and counseling who can interpret their test results and provide guidance about next steps.
For those seeking an explanation of their results, their first stop is usually the family physician, most of whom are not trained in human genetics. A study last year in Health Affairs found primary-care doctors are optimistic about genetic testing but aren’t confident about their ability to discuss genetic testing or offer guidance to patients. And so, the consumer is left to anxiously wonder: Could their results alter the course of their lives? Are there steps they should take now to promote their future well-being?
The solution is genetic counselors, who have advanced education and training in both the science of genetics and psychological counseling. These experts eat, sleep and breathe genetics. They understand the intricacies of test results and stay up to date on this rapidly changing field so they can walk consumers through their results and put those results into context. For example, a test result showing a consumer does not have a BRCA mutation — a positive result means a significantly elevated risk for woman of breast and ovarian cancer, and can lead to breast, prostate and other cancers in men — is not the same as a clean bill of health. Many at-home genetic testing companies only screen for a small set of BRCA mutations despite roughly 1,000 variations existing.
It’s also possible for a test to show a false positive or false negative. This kind of terrain is almost impossible for a consumer to navigate without a genetic counselor whose job is to ensure patients are fully informed. That often means getting a confirmatory test. A genetic counselor can ensure a patient gets the right test to confirm, or refute, the at-home results. Patients are then empowered to make decisions about their health and well-being.
Genetic counselors are the key to getting the most out of the amazing new science of genetic testing. Unfortunately, many communities lack access to genetic counselors. Right now, fewer than 5,000 certified genetic counselors are in the U.S. and Canada. According to a report from the National Society of Genetic Counselors, some states, including Wyoming, Vermont and Mississippi, each have fewer than five genetic counselors. West Virginia has zero genetic counselors. The wait to see a genetic counselor anywhere in the U.S. can be several months.
Without access to a knowledgeable guide, consumers might make the wrong choices about their health. Too often, they turn to the internet, which — it should come as no surprise — holds a never-ending supply of confusing and misleading information.
DNA ALLY exists to save people from going down the internet rabbit hole … giving them convenient and affordable access to experts who can help make sense of their DNA results. In a 20-minute phone or video consultation, a DNA ALLY genetic counselor can replace confusion with clarity and give consumers the peace of mind and guidance they need.
While at-home DNA tests have provided a valuable service by making it easy to tap into our own genetic data, we need to be able to interpret that data for it to be of any use. That’s why a DNA ALLY consultation is an essential pairing for anyone taking or gifting an at-home DNA test kit this holiday season.
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