Collaborative Partnerships: New Ways to Educate Patients About cfDNA Screening

A new study published in the Journal of Genetic Counseling assesses genetic counselors’ perspectives on recent practice changes necessitated by cell free DNA (cfDNA) screening in prenatal genetics and obstetrics. A team of researchers at the Cleveland Clinic conducted a study funded by NIH to examine board-certified genetic counselors’ perspectives on how to best integrate this screen into clinical practice.

“In previous studies, we’ve examined patients’ views of cfDNA screening and the perspectives of obstetricians and maternal-fetal medicine specialists,” states Principle Investigator Ruth Farrell, MD, MA, who is a board-certified Ob/Gyn and physician-scientist in decision science, health policy and bioethics. “Genetic counselors are an essential part of the team that supports patients as they learn and make decisions about their prenatal genetic testing options. So, we knew it was important to gain their perspectives as well. We are hoping to make a difference by talking to all of the members of the healthcare team.”

Non-invasive prenatal genetic testing

cfDNA screening, also known as non-invasive prenatal genetic testing or NIPT, can identify the risk of fetal conditions, such as trisomy 21 (also known as Down syndrome) and other related chromosomal aneuploidies. While this is used most often to screen for trisomy 21, 18 and 13, cfDNA screening can be used to screen for other conditions, like sex chromosome aneuploidies and, more recently, microdeletions with potential clinical significance.

To date, this screen has been offered primarily to women in the high-risk obstetric population, namely those women who will be 35 years or older at the time of delivery or have another risk factor based upon their current pregnancy or reproductive history. Yet, with emerging clinical validity data about the use of cfDNA in different patient populations, there has been an increase in the number of clinical practice guidelines to offer cfDNA screening to the low-risk population as well.

Changes in the capability of new genetic tests and policies surrounding their use can introduce specific challenges for pregnant patients who must decide if and how to use cfDNA screening as part of their prenatal care and their healthcare providers who are counseling them about their testing options.

Dr. Farrell notes, “Without adequate resources to learn about their testing choices, many women will find themselves on a decision pathway they may not be prepared to face.”

Obstetrician-gynecologists, maternal-fetal medicine specialists and genetic counselors all have a role to play in helping patients make informed decisions about cfDNA screening and their other testing options. The question is how the different members of a healthcare team can best work together to coordinate educational efforts and best support patients as they face this choice.

Marissa Coleridge, MS, LGC, a prenatal genetic counselor with Cleveland Clinic’s Center for Personalized Genetic Healthcare and co-investigator on the study adds, “cfDNA results are typically normal or abnormal, but sometimes they fall into more ambiguous categories that can increase risk. Genetic counselors are specifically trained to fine-tune results and pull together the bigger picture, including ultrasound results and personal family history, to aid in determining what it all means.”

Patients need time to learn and make informed decisions about different prenatal testing options

This study was based on prior work by Dr. Farrell and her research team. In one study, pregnant patients discussed the need to learn about their testing options as early as possible in their prenatal care, even if they are not yet ready to make a choice about which test to use (or, if any). Patient reported educational needs included information what conditions cfDNA can screen for and how to make a meaningful decision about their pregnancy and prenatal care based on the results. At the same time, study participants discussed the practical challenges of learning all of what they needed in a short period of time, especially if they did not already have an understanding of some of the basic concepts of genetic testing and risk assessment.

Growing demand for collaborative and innovative approaches to patient education and counseling

With this information in mind, Dr. Farrell and her team conducted a study of prenatal genetic counselors to determine how to effectively meet patients’ educational and decision-making needs in light of the challenges posed by new tests like cfDNA screening.

Among several current and emerging challenges, participating genetic counselors noted two main concerns. First, there was the issue of the shortage of genetic specialists to meet the increasing demand that accompanies expanded prenatal genetic screening capabilities. This raised important questions about who would educate patients about cfDNA and how that education would take place. Participants in this study discussed that, as a result of this shortage, a greater number of primary obstetric providers were educating patients about cfDNA and ordering the screen. Yet, there was concern that Ob/Gyns may not have enough time or resources to fully counsel their patients.

Second, participants noted an increasing trend in their counseling efforts: the need to dispel significant misconceptions about cfDNA. Study participants discussed how they had to commit a greater percentage of the counseling time to helping patients recraft their impressions about the purpose of cfDNA, specifically around the screen’s ability to identify sex chromosome aneuploidies. Participants noted growing numbers of patients asking for the “sex test” or, more commonly, “the gender test,” believing that the primary purpose of the screen was to learn if they would have a girl or a boy. Genetic counselors in this study were deeply concerned about this growing trend, discussing the implications for patients using cfDNA with this intent but learning of a potentially serious sex chromosome aneuploidy in the process.

Patient education about genetic screenings requires collaboration

Recognizing patients’ education and decision-making is a process that may take place over more than one visit and with more than one member of the healthcare team, there is a renewed commitment to collaboration among all members of the healthcare team to educate patients. Thus, there is a role for teamwork and collaboration between Ob/Gyns who may introduce the option of cfDNA screening to patients and genetic counselors and maternal-fetal medicine specialists who can have more in-depth conversations about this choice.

Genetic counselors also saw the need for innovative approaches to patient education and counseling about prenatal genetic screening. For instance, study participants recommend a strategic and staged collaborative approach, leveraging the strength of different members of the prenatal healthcare team. In this way, Ob/Gyns would focus on introductory concepts associated with prenatal genetic screening and diagnostic testing. In addition, Ob/Gyns could address the bigger picture of prenatal screening, including identifying patient goals and how they plan to use any information gained.

This type of discussion would then prepare the patient for the next stage of the decision-making process, when meeting with a genetic specialist to gain a more in-depth picture of their options. This staged and tiered approach could provide patients with the time to obtain the information they need, and the time and space to explore this information in their goals and values as individuals and members of families. The current situation also calls for educational efforts to improve the ability of Ob/Gyns ability to educate and counsel patients about their prenatal genetic testing options. Genetic counselors in this study felt a professional obligation to be part of those educational efforts as partners in prenatal care delivery.

“The decision to pursue cfDNA screening is a personal one. Part of the decision-making process involves the patient learning about the various conditions screened for and what the test can tell her about those conditions, “Dr. Farrell states. “Patients must decide if and how this information aligns with their values, goals and needs, because they are in the best position to make that decision. It is our job to provide our patients with the information and support they need to make choices.”

“Close collaboration really is key here,” notes Ms. Coleridge, “as it is imperative that the entire prenatal team is on the same page.” This study helps to identify strategies to ensure that members of a healthcare team are on the same page, and is itself an important step towards realizing that goal.