Supporting Patient Autonomy and Informed Decision-Making in Prenatal Genetic Testing

Abstract

Genetic counselors have both the burden and the privilege of supporting patients who are faced with making difficult decisions. In the prenatal setting, genetic counselors are responsible for reviewing a growing list of prenatal testing options for patients with the goal of helping people to anticipate the potential consequences of their decision. Prenatal genetic counselors also support patients in making decisions about the next steps after clinical evaluation has indicated a genetic condition, birth defect, or information of uncertain clinical significance in the fetus. The information provided and choices patients face in the context of prenatal and reproductive genetics can be life-altering, and decisions often must be made within a short window of time. It is imperative that the needs and preferences of each patient are considered and that individuals are empowered to make active decisions that are consistent with their needs and values. Here we will review the history of the role of the genetic counselor in the prenatal setting and will provide strategies and tools for supporting informed patient decision-making in the face of an increasingly complex reproductive genetic testing landscape.

Genetic counselors have played an important role in supporting patient decision-making in prenatal genetics since the inception of the profession. Recognizing that preferences related to prenatal genetic screening and diagnosis vary from person to person and are of great personal significance, genetic counseling practice has held the core value of supporting patient autonomy in the context of communicating balanced, current, and evidence-based information. Even with these priorities and goals in mind, decision-making in prenatal testing is complicated by numerous challenges such as the variety and complexity of available tests, reimbursement issues, and the possibility of uncertain findings (Fig. 1). Genetic test results as well as ultrasound findings that are difficult to interpret or for which there is insufficient information to predict clinical outcomes have long been a part of prenatal genetics. But as the number and scope of available genetic tests grow, so does the likelihood that an expectant parent will be faced with difficult decisions that must be made in the context of uncertain or incomplete information. Also complicating prenatal decision-making is the influence of agendas other than of the pregnant woman, including that of her family members and friends (Lewis et al. 2016), her reproductive partner, health-care providers (Muller and Cameron 2016), and commercial testing laboratories (Farrell et al. 2015). Deciphering the impact and importance of these external factors can be crucial in helping patients find their way to the choices that are best for them (Cernat et al. 2019).

Figure 1.

How to decide about prenatal genetic testing? The illustration is taken from the patient educational video, “How to Decide about Prenatal Genetic Testing?” This video is used to illustrate an example of a patient decision aid that was developed by genetic counselors. This and a series of patient educational videos on prenatal genetic testing were produced by the Washington State Department of Health and Genetic Support Foundation and are freely available online at www.geneticsupport.org/videos. (Figure reprinted courtesy of the Patient Library Genetic Support Foundation in conjunction with the Washington State Department of Health.)

Historically, genetic counselors have aspired to provide counseling that is “nondirective” (Kessler 1997). There is no single universally agreed upon definition of this concept, and approaches to operationalizing it vary (Bartels et al. 1997), but in the context of prenatal counseling the most fundamental issue is that genetic counselors seek to provide patients with information and support regarding their options without undue influence regarding their decision on what, if any, testing to choose or on how to act on the results (Benkendorf et al. 2001). The history behind the concept of nondirectiveness in genetic counseling is complex (Stern 2012), but, ultimately, the goal is to support and promote patient autonomy in decision-making.

However, when a patient is presented with more than one potential pathway or treatment option, simply providing information about all options may not adequately enable patients to arrive at a decision that is right for them. Ideally, the genetic counselor is able to provide each patient with up-to-date, evidence-based information related to the risks, benefits, and limitations of each option and to elicit information about the patient's values, preferences, and personal situation. The goal of counseling should not be to impart all of the information the genetic counselor knows to the patient; rather, the goal should be for the patient and genetic counselor to engage in a meaningful dialogue and a two-way exchange of information that will best help the patient arrive at a decision that is right for her (Kessler 1997). Through this dialogue, the patient's questions and preferences may become clear and the genetic counselor has the opportunity to develop an understanding of factors at play in their decision-making process such that they can reflect this understanding back to the patient. Evidence suggests that genetic counselors successfully utilize these techniques in their sessions (Salema et al. 2019). Such a dialogue also provides the opportunity for the patient to reveal any possible factual misconceptions so that these may be corrected. Ultimately, patients value how genetic counselors provide affirmation for the weighty and uncomfortable decisions they are responsible for in the prenatal context, without making the decision on their behalf (Salema et al. 2019).

Herein, we will provide context and background on the importance of supporting informed decisions in prenatal care. Standardized tools that may be beneficial to the genetic counselor to facilitate more meaningful and active support of patient decision-making in a variety of clinical scenarios will be introduced, and we will consider the importance of involving genetic counselors in the development of decision aids for use outside of the genetic counseling office (see Box 1).

BOX 1. STANDARDIZING INFORMATION FOR ALL WOMEN; SHARED DECISION-MAKING FOR EVERY WOMAN.

by Katie Stoll

In prenatal care today, all women have the option to consider prenatal genetic testing including aneuploidy testing and carrier screening for recessive and X-linked conditions. Although I had been through conversations about prenatal testing decisions with patients thousands of times, I did not appreciate how much my approach to these conversations aligned with the shared decision-making (SDM) model. As with SDM, my process typically involved three steps when offering prenatal genetic testing. In each case, the patient or couple must understand that they have a choice, and that all possible choices that are available to them are reasonable to consider and pursue. They must then be provided with sufficient information to make an informed choice among the presented options, and then they must be supported to deliberate their options.

For every patient there may be multiple decision points in which these steps may be considered. For example, a patient first may be asked to decide if they want to undergo any testing for aneuploidy in the pregnancy. If they do, they may be asked to consider whether they would like to undergo diagnostic testing directly or consider screening tests with follow-up to diagnostic testing only if the screening tests indicate an increased probability of aneuploidy. If they indicate their preference is to undergo screening tests, they may need to decide between multiple available options. If they elect diagnostic testing, they may need to decide between karyotype analysis versus chromosomal microarray (CMA). With each of these questions, patients need sufficient information to understand the differences among the options, the potential benefits, drawbacks, and limitations of each test they are offered, and the possible outcomes that may come from accepting or declining any of these options.

As the number and complexity of the genetic tests offered to women in pregnancy continue to increase, and as the demand for genetic counselors in every area of medicine continues to grow, genetic counselors may be less available to utilize these SDM strategies with patients one-on-one. As we consider the optimal way to deliver information about genetic testing to pregnant women in a patient-centered way that promotes informed and value-consistent decisions, genetic counselors are uniquely suited to develop decision aids that will best support informed and autonomous patient decision-making. One existing decision tool that I had a role in developing along with other genetic counselors is a short informational video that was created for patients to help them consider their initial decisions on what if any prenatal genetic tests to consider (https://www.youtube.com/watch?v=-vIJGFWJquk) (see Fig. 1).

The first step in this video decision aid is to identify that the patient has a personal choice to make about prenatal testing. The narrator reads, “Which tests or whether to undergo any of these tests in pregnancy is your choice. One of the most important questions to consider when deciding about prenatal testing is what will this information mean for you?”

The second step is to provide the necessary information to support an informed decision. Through animation to illustrate key concepts, as well as written and spoken words, information is shared regarding the overall scope, as well as the potential benefits, risks, and limitations of the various screening and diagnostic testing options.

And the third step supports deliberation of their options by posing questions that women may wish to consider when weighing the options presented to them. The following is an excerpt from the video illustrates this:

Questions to consider regarding diagnostic testing include:

• If your baby had a genetic condition, would you want to know before birth?

  • Some women would want to know if their baby had a genetic condition or birth defect because they would want to be able to prepare before delivery.
  • Some women would consider making an adoption plan for their baby.
  • Some would consider ending the pregnancy if they knew their baby had a genetic condition.

• Do you feel like “yes or no” answers would help you feel less worried?

• Are you comfortable with the risk of miscarriage associated with these procedures?”

Genetic counselors can help support informed patient decisions regarding prenatal testing in a scalable way through the development of decision tools such as this video. Although such tools do not replace one-on-one consultation with a skilled genetic counselor, they can provide important information and empower patients to recognize they have an active decision to make about testing and provide some guided questions on what should be considered as one makes choices about these testing options.

HISTORY OF GENETIC COUNSELING AND SUPPORT OF INFORMED DECISIONS

The profession of genetic counseling emerged in tandem with the technological development and clinical availability of prenatal testing. The first prenatal diagnosis through fetal karyotype using amniocytes occurred in 1968 (Valenti et al. 1968), and the following year, the first genetic counseling training program at Sarah Lawrence College welcomed its initial cohort of genetic counseling students (Stern 2009). The 1970s brought many new developments in prenatal screening including the discovery of the association between elevated maternal serum alpha-fetoprotein and open neural tube defects (Wald and Cuckle 1977) and of reduced β-hexosaminidase A activity in Tay–Sachs disease carriers. Carrier screening for hemoglobinopathies such as sickle cell anemia and β-thalassemia also became possible in the 1970s (O'Brien et al. 1970; Markel 1997). As prenatal testing options grew, many genetic counselors began their careers in antenatal diagnostic centers throughout the country.

A number of social and political factors contributed to establishing the role of the genetic counselor in perinatal care in the final decades of the twentieth century. These included the women's reproductive and patients’ rights movements and an increasing focus on bioethical principles in medicine. In addition to progressive political forces that shaped the profession's focus on reproductive autonomy, there was also a strong desire on the part of genetic professionals to distance themselves from the eugenics movement in the first half of the twentieth century. Genetic counselors approached reproductive counseling with the goal of providing information and support to help facilitate informed decision-making consistent with the patient's personal needs and values (Stern 2012).

CHALLENGES TO INFORMED DECISION-MAKING

For as long as prenatal genetic testing has been available, there have been concerns about whether or not all patients are given the opportunity to make informed decisions about their options (Seavilleklein 2009). The challenges faced in terms of patient education and counseling have only grown in number and complexity as prenatal genetic testing options have expanded.

Practice guidelines today dictate that all women should be offered a menu of genetic tests including carrier screening, screening for aneuploidy, and diagnostic testing (American College of Obstetricians and Gynecologists 2016, 2017). Typically, the discussion of these tests first occurs in the obstetric office, and the amount of time and attention dedicated to these discussions can vary tremendously, as do which tests are offered and under what circumstances. This variability may be attributed to differences in the preference of individual providers, a lack of awareness about current practice guidelines, site-specific screening protocols, and ever-changing insurance payer policies regarding prenatal genetic tests (Bernhardt et al. 1998; Farrell et al. 2011).

In some cases, patients may not be aware that they have the option of having prenatal genetic testing (Bryant et al. 2015). Or the genetic tests may be offered in such a way that they appear to be a routine part of prenatal care, and it is unclear to patients that they have an active choice to make with regards to which, if any testing, they would like to pursue; patients may not always be aware that they have the option to decline testing altogether (Seror and Ville 2009; Johnston et al. 2017).

There are many factors that may lead practitioners to favor testing over a nuanced discussion and informed consent process or documenting the patient's decision not to test. For one, the current health-care system requires prenatal care providers to cover a growing list of complex topics with their patients in an increasingly short clinical encounter. Additionally, many prenatal care providers are concerned that they may be vulnerable to a wrongful birth suit if a genetic condition is not diagnosed (Pergament and Ilijic 2014).

In October of 2011, prenatal cell-free DNA (cfDNA) screening became clinically available in parts of the world, including the United States, for women with an increased chance for aneuploidy in their pregnancy (Minear et al. 2015). The initial cfDNA screens evaluated for trisomy 21 exceeded the performance of previously available aneuploidy testing with both higher detection rates and lower false-positive rates. By early 2012, commercially available cfDNA screening was expanded to also include trisomy 13 and 18 (Palomaki et al. 2012), and later that year screening for sex chromosome aneuploidy was also available through many laboratories (Ramdaney et al. 2018). In screening the X and Y chromosomes, reporting of predicted fetal sex as early as 10 wk gestational age was also made possible through cfDNA screening. This feature of cfDNA screening and the intense marketing campaigns by the testing laboratories directed at both health-care providers and patients were factors that led to adoption of new technology into clinical practice at an unprecedented rate (Minear et al. 2015).

Currently, cfDNA screening is often offered to many women who are considered to have a low probability of a chromosome abnormality. Its utilization has been significantly expanded internationally as well. In addition to screening for aneuploidy, many laboratories now screen for common microdeletions, and there are cfDNA products that screen for copy number variants throughout the genome. Testing for single-gene disorders has also recently become available on a clinical basis (Zhang et al. 2019), and it seems possible and perhaps even likely that this technology will expand to genome sequencing in the clinical setting in the near future (Hayward and Chitty 2018).

With the increased sensitivity of screening tests for aneuploidy through prenatal cfDNA screening relative to previously available aneuploidy screens, fewer women are electing to have diagnostic testing (Huang et al. 2018). Given that consideration of diagnostic testing has historically been an entry point for the involvement of genetic counselors, fewer patients taking this path results in fewer patients who are given the opportunity to meet with a genetic counselor (Minkoff and Berkowitz 2014).

These factors are making the utilization of genetic testing in pregnancy more commonplace while at the same time making genetic counseling prior to testing rarer. Many women are only offered genetic counseling after testing has identified an increased probability of a genetic condition. This routinization of genetic testing in pregnancy represents a fundamental shift from the original goal of informed and autonomous decision-making on testing preferences.

Although many patients desire prenatal genetic testing, some individuals may not wish to face the decisions that may ensue, including whether or not to undergo diagnostic testing or how to respond to an abnormal prenatal diagnosis. If the blood test they have taken as a matter of course shows an increased probability for a genetic condition, they may feel pressured to undergo subsequent diagnostic testing, and depending on the results of the diagnostic testing, they may feel pressure to act on results in a specific way (Schoonen et al. 2012). This may occur when patients undergo genetic screening in pregnancy without fully anticipating the possible outcomes and possible next steps in advance of a testing decision.

INFORMED DECISIONS WITH UNCERTAIN INFORMATION

Initially prenatal genetic testing for Mendelian disease was focused on tests for a few specific conditions for which information about anticipated diagnoses could be relatively clear. For example, carrier screening was initially offered clinically for well-characterized recessive conditions in higher-risk populations based on ethnicity or family history. The variants selected for carrier screening were reviewed carefully to ensure that residual risk estimates and genotype–phenotype information were available to allow for genetic counseling with relatively unambiguous information about expected prognosis and relative risk.

Much more extensive genetic carrier screening is now available to some women preconception or during pregnancy, including screening for dozens to hundreds of variants associated with several genetic conditions. However, this opportunity for more information comes at the cost of a greater likelihood of uncertain or unanticipated findings. When screening for more genes, the probability of an abnormal result is higher, and many who undergo expanded carrier screening are carriers for a variant in at least one of the genes on the panel (Guo and Gregg 2019). And given that many laboratories now utilize next-generation sequencing of the entire gene rather than genotyping for known pathogenic variants, it is becoming increasingly common for laboratories to report out novel variants for which our ability to predict the clinical outcome is limited (Kraft et al. 2019).

With the expansion of cfDNA screening to rare microdeletions and even single-gene disorders, there is a higher possibility of a false-positive result. The predictive value of any screening test is dependent on the prevalence of the condition screened for, and thus, at a given level of accuracy, the rarer a condition is, the more likely the result is to be a false positive. Given that many women receive little pretest counseling regarding their prenatal cfDNA screening, people may fail to recognize the possibility that these abnormal results are incorrect as well as the limitations of the testing (Farrell et al. 2015).

Patients undergoing amniocentesis or chorionic villus sampling may now consider CMA in place of karyotype analysis for diagnostic testing. CMA identifies more clinically significant chromosomal abnormalities than traditional karyotype analysis, identifying a clinically significant chromosomal variant in 6% of pregnancies with a structural abnormality on ultrasound and 1.7% of pregnancies in cases of maternal age or abnormal aneuploidy screening. Additionally, 1%–2% of women who undergo testing with CMA in pregnancy will have a finding of uncertain significance (Wapner et al. 2012).

A study by Bernhardt et al. (2013) examining the effects of receiving abnormal or uncertain findings from CMA during pregnancy revealed that even with thorough pretest genetic counseling to help them understand and anticipate the possible results, participants still reported feeling blindsided by test results when they received an uncertain finding. They struggled with uncertain results and some described tests results as “toxic knowledge”—information that caused great anxiety that they regretted having received. Reflecting on their decision to undergo testing in the first place, many women expressed that they had felt it was an offer too good to pass up. Although many of these patients felt supported by their provider after receiving abnormal results, some reported feeling abandoned during the decision-making process (Bernhardt et al. 2013).

Dealing with uncertain information has always been a part of prenatal genetics. With genomic screening becoming both more accessible and more comprehensive, up to and including exome or genome sequencing, the potential for uncertain findings will only grow, creating new challenges in genetic counseling and informed consent. Approaches to counseling should recognize the unique needs and values of each couple and strive to help individuals understand the range of possible outcomes and the possibility of receiving results with unclear implications. Although many will find that the potential benefit of more information is worth the possibility of uncertainty, more information is not a plus in all circumstances.

SHARED DECISION-MAKING

Given the problems associated with the use of the descriptor “nondirectiveness” (Kessler 1992; Weil 2000), the more clearly defined concept of SDM has received increased recognition in recent years as a patient-centered approach to supporting informed choices in medical care (Beach and Sugarman 2019). SDM has been demonstrated to be an effective strategy for empowering patients to take an active role in making complex medical decisions when there is more than one reasonable treatment option available. The foundational principle for SDM is that patients are capable of making informed decisions that are consistent with their values through weighing new information and deliberating options with a supportive health-care provider (Elwyn et al. 2012). These principles of SDM are used in genetic counseling practice (Birch et al. 2018). SDM often lends itself very well to genetic counseling in that there is often more than one reasonable path or option available to patients, and the factors that shape patient decisions may rely heavily on individual values and the preferences of the patient.

A three-step process for SDM has been proposed (Elwyn et al. 2012). In the first step, the practitioner makes clear that there is a choice in how to proceed and that there are two or more viable treatment plans or options. The patient should understand that they are being asked to be actively engaged in a decision regarding their care with multiple reasonable possible options. This is an issue in the area of prenatal genetics, where patients may not always appreciate which tests and procedures are optional, and they may not always feel empowered to decide for themselves how they would like to proceed.

The second step in the SDM process is providing information. This process is intended to ensure that patients are provided with adequate information about their treatment options so that they are able to make an informed decision. The information provided to the patient should be unbiased, up-to-date, and evidence-based.

The third step is to support deliberation. During this step, patients are encouraged to explore what matters most to them as they consider their options and eventually arrive at an informed decision with the clinician to help guide them.

Decision Aids

In some clinical situations, SDM may be supported through the use of specific decision aids. In their simplest form, aids may communicate the probability of benefit and harm and describe the limitations of various testing options. More elaborate aids may incorporate value clarification exercises or review the experiences of patients who have faced similar choices. Some tools may be recommended for patients prior to meeting with the clinician to allow them to prepare for the visit. Other aids may be used during the session itself. Patient decision aids may be in the form of a booklet, a printed-out worksheet, a video, or an internet-based survey tool. Patient decision aids have become more available (O'Conner et al. 1999; Stacey et al. 2017), and genetic counselors have played a role in developing aids to support decisions in multiple clinical genetic areas (Box 2). Analysis of the effectiveness of patient decision aids indicates that the use of these tools can improve patient agency in decision-making and clarify the patient's values and needs. Additionally, these tools have been shown to reduce decisional conflict and regret, helping patients have a better understanding of outcome probabilities (Leinweber et al. 2019).

BOX 2. PATIENT COACHING WITH USE OF A DECISION AID.

by Judith Jackson

After several months of trying to conceive, Sara and Brian were elated to learn they were expecting. Sara was 37 yr old, and this would be the first pregnancy and first baby for the couple. When Sara was 12 wk pregnant, she met with my colleague, another genetic counselor in our department. At this visit, the genetic counselor reviewed prenatal genetic screening and diagnostic testing options with Sara and Brian and they opted to proceed with combined screening. The first-trimester ultrasound including nuchal translucency measurement was normal, as were the analyte markers. The couple was reassured by the results of these tests which indicated that they had a very low chance for Down syndrome, trisomy 18, or a neural tube defect. At 18 wk 2 d gestation, Sara and Brian returned to the clinic for a detailed ultrasound examination. At this visit an abnormal curvature of the spine was noted in the fetus. The couple was referred to a local pediatric hospital for a fetal MRI, and a pediorthopedic consultation. The MRI detected significant kyphosis at L2-3 caused by block vertebrae or two levels of hemivertebrae. In addition, the spinal cord appeared tethered. It was thought that it was most likely an isolated abnormality and that is was surgically correctable, although there was a significant risk for paralysis after birth.

At 22 wk gestation, after multiple appointments with specialists, the couple contacted the MFM clinic and requested a same-day appointment with a genetic counselor. My colleague who had met with the couple previously was not in the office that day. I spoke with Brian and explained that they might prefer to come back the following day when they could meet with the genetic counselor they had previously seen. Brian expressed that they were feeling some urgency to speak with someone that day. He shared that they had consulted with many specialists regarding the prognosis and felt comfortable that they knew as much as there was to know. He said they needed help with the decision-making process, regarding whether to continue with the pregnancy or not. As I was new to meeting this family and they were so specific in their request for support in making this decision, which was clearly very difficult for them, I felt like a decision support tool could be useful in helping to guide our discussion.

I met with the couple later that afternoon, and in using the Ottawa Personal Decision Guide for Two (see Fig. 2), I helped guide Sara and Brian as they worked through their thoughts and feelings regarding this very difficult decision.

The first step is early defining the decision and the possible options. In this case, Sara and Brian were clear, “We are deciding whether to continue with the pregnancy or not.” With this, we clarified the two options being considered with this decision: continuing the pregnancy or not continuing in the pregnancy.

Next, I asked the couple, in addition to the two of them, who was weighing in on this decision? In this case, this was a critical component of our discussion. Sara and Brian expressed that they had shared the information about the birth defect and prognosis only with their parents, and one set of parents had very strong opinions about what they believed was the best decision. From this, we explored Sara and Brian's preferences for what role they wanted in making the choice. The couple mutually agreed that they wanted to make the decision together and that, ultimately, it was only their opinion that mattered. They were asked to try to push aside the opinions of others regarding the impending decision to be made. I then asked Sara and Brian to consider the reasons to choose each option (benefits/advantages/pros) and also the reasons not to choose each option and (risks/disadvantages/cons). The couple then each answered yes or no to the following questions:

• Do you know the benefits and risks of each option?

• Are you clear about which benefits and risks matter most to you?

• Do you have enough support and advice to make a choice?

• Do you feel sure about the best choice for you?

For any “no” answers to the above, as the coach, I could help provide accurate information or direct them to resources that they further explore. The Ottawa Personal Decision Guide together with the context of what Brian and Sara had shared with me to that point prompted follow-up questions that I could ask and help answer to help them move closer to a decision.

Sara and Brian identified one piece of information that might make a more informed decision. They hoped to learn more about the experience of being a parent to a child who was paralyzed. I offered to connect them with a mother I knew who had a child with spina bifida who was in a wheelchair, although I also counseled the couple about the limitations of hearing just one story. The couple was interested in meeting or talking with this woman and eventually did. The guide helped to structure the discussion in such a way that ultimately the couple was able to reach a decision that was consistent with their own values and wishes.

Several years later I met with the couple again and they remained confident that they had made the decision that was right for them.

One SDM tool that may be used in a variety of genetic counseling sessions is the Ottawa Personal Decision Guide https://decisionaid.ohri.ca/decguide.html (Fig. 2). An example of its use in a clinical scenario involving decision-making in the face of uncertainty is provided (Box 2).

Figure 2.

Ottawa Personal Decision Guide. The Ottawa Personal Decision Guide (OPDG) and Ottawa Personal Decision Guide for Two (OPDGx2) are validated patient decision aids that are designed for any health-related or social decisions. These decision aids are freely available for use online (https://decisionaid.ohri.ca/decguide.html) and can be used by patients on their own or with the assistance of a health-care provider acting as a decision coach. (The pages from the guide are reprinted with permission from the authors, Stacey, O'Connnor, and Jacobsen at the Patient Decision Aids Research Group, Ottawa Hospital Research Institute and University of Ottawa, Canada, 2015.)

The case illustrated in Box 2 demonstrates the use of a shared decision aid by a genetic counselor working with a couple faced with a difficult decision in which the prognosis was uncertain. However, many people facing difficult decisions arrive at a choice without this formal process. The use of a formal decision aid such as the Ottawa Personal Decision Guide may be especially beneficial in cases in which a patient is struggling with arriving at a decision or at times when members of a couple are not initially in agreement.

In cases when a decision aid is not used, components of the guide and process can often be utilized informally in a genetic counseling session. A key step in this model is to ask the patient if there are any remaining questions that could be answered to help in their decision-making. Patients have expressed decisional regret when they recall unanswered questions prior to moving forward with a treatment plan (Bernhardt et al. 2013). Genetic counselors can ensure that misunderstandings are clarified whenever possible with the goal of providing accurate and up-to-date information. The patient's response may give an indication of the extent of their support system and facilitate the provision of resources when there are deficiencies in support. Genetic counselors can ask their patients what role they want to have in this decision. Additionally, they can ask who else is a part of this decision, and how much does their opinion matter.

CONCLUDING REMARKS

Genetic counselors have played a crucial role in supporting patients to make informed and value-consistent decisions in the prenatal genetic setting since prenatal screening and diagnosis were first possible. As complex tests such as cfDNA and expanded carrier testing become more routine in obstetrical care, the percentage of patients who work directly with a genetic counselor to help them navigate through the decision-making process will necessarily decrease. And with the growing use of these technologies taking place outside of the genetic counseling setting, new tools to support patient decision-making in prenatal genetics will be needed. Given the experience of genetic counselors in supporting patients through sometimes difficult decisions with regard to prenatal testing, genetic counselors are uniquely equipped to design programs and tools including decision aids that can support patient decisions even when they are not directly involved in their care.

Although genetic counselors have been practicing with elements of the SDM principles for decades, the application of the SDM model to the prenatal genetic counseling practice has not been extensively evaluated. Thus, additional research is needed on the effectiveness of using SDM principles in a genetic counseling setting. However, because in-person counseling is not a viable answer in light of the expansion of prenatal screening, genetic counselors should play an integral role in developing decision aids to be used by counselors and in OB offices. These decision aids allow genetic counselors to impact the quality of prenatal decisions even when they are not able to work directly with the patient.