Rachel Collier: Genetic Counseling Is More Than a Blood Draw, and Testing Is Always a Choice
Episode Summary
Many people walk into a genetic counseling appointment expecting a blood draw. Rachel Collier wants them to know there is far more available: education, informed consent, and real space to talk through what this information could mean for their lives. Because genetic results are information you can’t unlearn, she treats testing as a true choice, including the choice not to test. Rachel describes how hereditary cancer risk tends to become real in two phases, first in the initial appointment, when memories of relatives’ cancer treatment can resurface, and again when results arrive. She talks about staying quiet through the shock, refusing to label a result as good or bad news before she knows what it means to the person in front of her, and why some families feel relief at a positive result after years of unanswered questions.
From there, Sara and Rachel follow genetic information as it moves through families. They explore the weight placed on the first person to test, relatives who learn their carrier status without ever wanting to know, and the hard conversation with parents who want their young children tested for adult-onset cancer risk. Sara brings a trauma-informed lens to the people who decline testing, describing that choice as protective rather than wrong, and naming a truth that rarely gets said: agency can carry a burden, especially for people whose survival strategy is self-criticism. Sara also shares her own experience of an OB-GYN whose repeated “shoulds” led her to leave that provider. The conversation closes on a question at the center of Sara’s work: can something be hard without meaning we did something wrong?
We Cover
Common misconceptions about genetic counseling, including that it’s only a blood draw, that the counselor is a physician, and that a referral means you have to test
Pre-test counseling, informed consent, and why genetic testing is always optional
Why some people reschedule and cancel repeatedly before they ever make it in the door
How short medical visits train patients to rush their questions, and what changes when there is time to talk
The two moments hereditary cancer risk becomes real: the first appointment and the results
Shock, silence, and the first questions people ask, which are often about their children
Why a result feels different when the expected chance of a mutation was 50% versus 1%
Non-directive counseling and why a positive result isn’t automatically “bad news”
The first person in a family to test, often called the proband, becoming the messenger to relatives
Obligate carriers and the tension between one relative’s right to know and another’s right not to
Why people decline testing, the belief that “if I don’t test, it isn’t real,” and declining as a protective decision
The window of tolerance and how already stressful circumstances shape what a person can take in
Agency as a burden, especially for people whose survival strategy is self-criticism or self-punishment
How Rachel answers “What would you do?” by describing scenarios people can recognize themselves in
Sara’s experience with an OB-GYN whose repeated “shoulds” pushed her away
Why testing young children for adult-onset cancer genes such as BRCA is generally not recommended, and the exceptions
How a parent’s knowledge of a child’s result can subtly shape how that child is treated
Returning to genetic counseling years after testing, when you’re ready for more information
The peaks of intensity across a carrier’s life, and the pull toward black-and-white thinking and self-blame
Highlights & takeaways
“We don’t want people to have testing ordered and they learn information that they can’t unlearn.” Pre-test counseling exists so people know what they’re choosing before they choose it.
A positive result isn’t automatically bad news. For a family that has searched for years to understand multiple cancers at young ages, an answer can bring relief.
“Agency in and of itself is not always a conversation of empowerment.” For people who manage hard emotions through self-criticism, more choices can mean more chances to feel they got it wrong.
Declining genetic testing can be a protective decision, not a wrong one. As Sara puts it, “Only you get to know what is best for you to interact with and when.”
“We’re making the best decision that we can using the resources and information that’s available to us today.” Future you has to honor the choice present you made with what you knew.
“Can this just be hard?” When something feels hard, many of us immediately search for what we did wrong. Taking the moral label off difficulty creates room for grief without self-attack.
Content Note
This episode includes discussion of hereditary cancer risk, cancer diagnoses in the family, traumatic memories of relatives’ cancer treatment, receiving genetic test results, family conflict over disclosing carrier status, genetic testing of children and teens, IVF and preimplantation genetic diagnosis, prophylactic double mastectomy, grief over not being able to breastfeed, and self-blame.
Resources Mentioned
Hoag Memorial Hospital Presbyterian: Private hospital in Newport Beach, California, where Rachel provides genetic counseling for adult patients
Genetic counseling follow-up: Rachel and Sara note you can return to a genetic counselor years after testing when you’re ready for more information or to think through preventive options
Connect
If this conversation helped you think differently about genetic testing, follow Walking the Genetic Line, rate and review the show, and share this episode with someone who has been told they should consider testing and isn’t sure yet.
Connect with Sara Champie, LCSW at sarachampielcsw.com and on Instagram @SaraChampieLCSW.
Let's walk this line, together.
Additional support
Therapy with Sara Champie, LCSW: Psychotherapy for people navigating hereditary cancer risk, cancer diagnosis, and medical decision-making. sarachampielcsw.com
Find a genetic counselor: The National Society of Genetic Counselors directory at findageneticcounselor.nsgc.org
988 Suicide & Crisis Lifeline: Call or text 988 in the U.S. for immediate support
Sara Champie
