Genetic testing drives interdisciplinary collaboration in patient care

A young woman considering genetic testing to learn her potential risk for amyotrophic lateral sclerosis (ALS) faces a dilemma because a positive result could also reveal unwanted genetic information about her healthy mother. A cancer patient learns that her children could have inherited her genes associated with cancer. A middle-aged man learns he carries the genes for autosomal dominant Alzheimer’s disease (ADAD) and is likely to develop the condition at an early age and experience memory loss and other difficulties in the process. These and similar scenarios are becoming more common as genetic testing becomes a routine part of health care.

Genetic testing is expanding around the world. These tests examine alterations in DNA and RNA, chromosomal structures, and protein markers to either verify or exclude a potential hereditary condition, as well as assess an individual’s risk of acquiring or transmitting an inherited disease. Data from the NIH Genetic Testing Registry show that the different types of genetic tests available rose from 1,081 in 2012 to 6,214 in 2022 globally, while in the United States, the available types of tests increased from 607 to 3,097 over the same period. By November 2022, individuals and providers had administered and submitted 197,779 tests worldwide and 129,624 in the United States, including updated versions of existing tests, to the Genetic Testing Registry; more than 90% were intended for clinical use, primarily for diagnosis (Halbisen, A. L., & Lu, C. Y., Journal of Personalized Medicine, Vol. 13, No. 4, 2023opens in new window).

Genetic tests are a powerful tool in diagnosis and illness prevention. However, they can also affect people’s emotions and behavior, with reactions shaped by how well they understand the results, how much control they feel over the disease and their lives, and the resources they have to adapt to a potential new reality (Oliveri, S., et al., Frontiers in Genetics, Vol. 9, 2018opens in new window).

In this context, genetic counseling—a relatively young field of professionals who both understand the science behind genetic test results and have the psychological tools to guide patients through the testing process—is gaining ground. “We bring [these skills] together in a way that is centered around patients and their experiences,” said Kelly Ormond, current president of the Transnational Alliance for Genetic Counseling and a registered genetic counselor with the American Board of Genetic Counseling and European Board of Medical Genetics. “This is why it’s such an interesting and growing field.”

Although the field remains relatively small, its evolution is opening the doors for interdisciplinary conversations (Ormond, K. E., et al., Genetics in Medicine Open, Vol. 2, No. 2, 2024opens in new window). Those conversations, among physicians, psychologists, and researchers, are helping to develop tools and knowledge—particularly around communicating risk, uncertainty, and emotional readiness, and planning next steps—that health professionals across disciplines can use to assist patients in navigating complex medical information.

People seek genetic testing for many reasons, including family history of a single-gene disorder or concern because of a variant in a relative, such as BRCA1 or BRCA2 (tumor suppressor genes that help repair damaged DNA). Inherited harmful mutations can significantly increase the risk of developing cancers, especially breast, ovarian, pancreatic, and prostate cancers. Clinicians who guide patients through testing must understand these pathways, which can shape patients’ expectations, risk interpretation, and approach to uncertainty (Bagnati, P. M., et al., Alzheimer’s & Dementia, Vol. 17, No. 2, 2025opens in new window; Patel, P. G., et al., Preventive Medicine Reports, Vol. 57, 2025opens in new window).

For people with a family history of disease, genetic testing can reduce uncertainty and inspire precautions such as increased surveillance, regular screening, or preventive care. For others, it can create new worries. For example, a positive result may spark difficult family conversations, fears of discrimination, or anxiety about what lies ahead, said Chloe M. Reuter, MS, a genetic counselor and clinical assistant professor at the Stanford School of Medicine.

A preliminary assessment of a patient’s emotional and social readiness to learn the results is critical before genetic testing, explains Jorge Llibre-Guerra, MD, MSc, an assistant professor of neurology at Washington University Medicine Department of Neurology in St. Louis. This assessment goes beyond mental health alone and should consider whether patients have a support network (i.e., family, friends, etc.) and access to health care resources to receive ongoing psychological support over the long term.

Unlike a diagnosis, genetic tests usually show risk, not certainty. Clinicians must learn to communicate these nuances because explaining genetic risk requires more than citing just percentages, said Valerie Reyna, PhD, professor of human development and director of the Human Neuroscience Institute at Cornell University. In conditions such as Huntington’s disease, where a positive genetic test means a person will almost certainly develop the illness, the message is relatively straightforward. But that clarity fades in cases including most cancers, where carrying a gene mutation increases risk without guaranteeing the disease will ever appear. “That’s a much more complicated conditional probability,” Reyna said. “You have to be careful. You have to indicate that there’s some level of variability in the results.”

In her research on fuzzy-trace theory—a cognitive psychology framework—Reyna argues that people do not make decisions by carefully weighing numbers alone, as earlier approaches to numeracy assumed was appropriate (Medical Decision Making, Vol. 42, No. 6, 2022opens in new window; Nelson, W., et al., Annals of Behavioral Medicine, Vol. 35, No. 3, 2008opens in new window). Instead of balancing how large an outcome is against how likely it is, people rely more on the simple, bottom-line meaning of the information. “Patients often have trouble understanding these probabilities and these outcome numbers,” Reyna said.

This is where medical professionals can help patients understand the gist—the essence or bottom-line meaning—of how the numbers may impact their lives by communicating in broad, often practical terms. For instance, is a risk tiny, huge, or somewhere in between? Are differences in treatment outcomes large or small? Is the treatment’s success a matter of life or death? The main goal is to communicate the potential consequences and the overall meaning of the result rather than minute details.

For example, if a patient with a family history of hemochromatosis—a genetic condition in which iron builds up in organs such as the liver, pancreas, and heart—is doubting whether to get tested, a physician can communicate that managing the condition is simple: donating blood. And while doing so may cause a small inconvenience for the patient, it’s still much better than the consequences of leaving the condition unidentified, such as developing a serious illness or even dying.

“At the end of the day, you have to think to yourself, what do all these numbers mean? How would you understand them if you were a patient?” Reyna said. This approach is especially useful when patients are distressed by their results, because strong emotional arousal can make it harder to process, understand, and remember numerical information, she explained.

Once the patient understands the implications of the genetic result, the provider should communicate that there are options, Reyna added. “When people feel fear but don’t feel a sense of control, that’s when they really despair. And you don’t want people to despair in a context like this when so much can be done.”

This becomes particularly necessary in cases where genetic testing is used to detect genes related to mental health. “People often look at their genes as a sort of a representation of who they essentially are on a fundamental or deep level,” said Matthew S. Lebowitz, PhD, an assistant professor of medical psychology (in psychiatry) at Columbia University.

In his research, Lebowitz has learned that sometimes people who learn about having a genetic predisposition to depression perceive themselves as having had more severe depressive symptoms in the past, altering how they understand themselves and their past selves (Journal of Consulting and Clinical Psychology, Vol. 85, No. 11, 2017). He stresses the importance of teaching people that genes don’t operate in a deterministic way. “Regardless of people’s genetic makeup, they have agency and are empowered to make choices and engage in behaviors that can have positive influences on their mental health,” he said.

And this kind of communication shouldn’t stop with the patient. In many cases, counselors and physicians also play a role in helping patients talk with their families—guiding those conversations and clarifying what a diagnosis means and does not mean. “Illness doesn’t happen in a social vacuum. It totally affects immediate family; it affects friendships,” said Tracey A. Revenson, PhD, a professor of psychology at Hunter College and the Graduate Center of the City University of New York.

Llibre-Guerra, for example, has seen cases where people who have tested negative for the genes that are affecting other family members feel guilt, not relief, upon learning they will avoid the implications for the rest of their family.

After a provider delivers the results, they can refer patients to a licensed psychologist to work on a long-term follow-up and normalize that uncertainty—first by making space for emotion, then by helping patients process the information and regain a sense of control. People may not be able to control whether the disease develops, but they can control their habits, screenings, attention to symptoms, and adherence to treatment, Revenson explained.

Need for this guidance is driving demand for more tools and research grounded in treatment and intervention to improve risk communication and help people cope with the results. “Health psychologists and behavioral medicine specialists have this edge,” Revenson said, “to be able to look at the evidence-based research, to develop interventions or disseminate them.”

Genetic counselors receive psychology-based training to support patients around risk and testing, but most are not trained for long-term therapy. Psychologists can provide deeper mental health care and research-based tools that can strengthen how patients are supported before, during, and after testing, making collaboration between the two essential for helping patients with genetic risk.

When Reuter began working with patients with hereditary heart disease and children with rare diseases, she realized she needed more tools than what her training had given her to understand her patients’ concerns. “ I didn’t have a structured way to necessarily assess how a patient was feeling psychologically or emotionally about their diagnosis or about genetic testing,” she said. Around that time, she had the opportunity to work with a marriage and family therapist who introduced her to the BATHE method.

The main goal of the BATHE (background, affect, trouble, handling, and empathy) method, Reuter said, is to give clinicians a simple way to understand how genetic test results or a genetic diagnosis may impact a patient in the context of their life. BATHE guides providers through a brief conversation about what is happening in a patient’s world, how they feel, what worries them most, and how they are coping. Reuter has adapted the approach for genetic counseling but says it can be used by any physician working with genetic tests (in fact, the method was first developed to help physicians improve their communication with patients). Similarly, it can help clinicians check their own assumptions about how patients are feeling and how they might respond (Moscarello, T., et al., Journal of Genetic Counseling, Vol. 34, No. 3, 2025opens in new window).

It is also important that health care systems create the conditions so that professionals communicating genetic results have access to training and strategies for cultural sensitivity, recognizing that patients from different backgrounds may have distinct concerns, Revenson explained.

In her current research on how different communities in the United States respond to genetic information, she found that concerns vary by culture. Latine patients, for example, often worry about privacy and possible discrimination based on genetic risk, whereas Black patients may be more concerned about discrimination within the health care system. In many Asian cultures, discussions of mental health remain taboo. Being aware of these differences, she said, is essential for building trust. Although cultural beliefs may deter some patients from seeking psychological care, a trusting relationship with the provider who communicated the results can make them more open to a referral.

Llibre-Guerra’s work in the Genetic Counseling Program for Latin America (PRAGA), which adapts standardized genetic counseling methodologies to Latin American cultural contexts, particularly for families at risk of ADAD, shows clear differences in who seeks testing. He has found that people with higher education, higher socioeconomic status, and prior family participation in research are more likely to seek genetic testing and better able to process technical information than those with little exposure to genetics or the disease (Bagnati, P. M., et al., Alzheimer’s & Dementia, Vol. 17, No. 2, 2025opens in new window).

Even as genetic tools expand and more counselors enter the field, many medical centers in the United States and worldwide still offer testing without support from counselors or clinical psychologists. At the same time, strained health systems leave physicians little time for in-depth conversations.

Genetic counseling visits typically last 60 minutes in many institutions, but doctors may be pressured to have shorter appointments to fit in as many patients as they can, explained Laynie Dratch, a genetic counselor at the University of Pennsylvania. “Even if [physicians] have the training and the compassion, they might not necessarily have the time.”

One possible solution to these shortcomings is the creation of comprehensive programs built into clinical trials, like one Llibre-Guerra helped develop in Latin America. Designed with continuity in mind, the program connects participants to local resources once testing is complete. The program is part of the Dominantly Inherited Alzheimer Network (DIAN), which offers long-term observational studies to track how the disease progresses and, for some families, access to clinical trials. “There’s a series of resources after [the clinical trial] that the person can access,” Llibre-Guerra said.

Dratch also recommends that psychologists who provide long-term support for clients considering genetic testing, or adapting to the results after genetic testing, learn the basics of key genetics concepts that may be relevant to their clients. The National Society of Genetic Counselors, she noted, offers resources to help clinicians build that knowledge.

Globally, genetic counseling is unevenly regulated, with wide differences across countries, and even within the United States, limiting access to care and creating inconsistencies in the quality of support patients receive. That said, genetic testing is here to stay, and its role in medicine will only grow.

As health systems adapt and genetic counseling moves toward wider regulation, Revenson offers simple advice: Medical providers should lead with empathy. She urges psychologists and mental health professionals to deepen their understanding of specific diseases and work closely with providers. The same should apply in reverse, she said—physicians should always have psychologists to call on when patients need help coping with the emotional and long-term impact of genetic risk. “ We all have to be willing to learn and come out of our comfort zones.”