Next Generation Genetic Counseling: Introduction to the Special Issue

The genesis of the idea for this special issue, as well as its title, “Next Generation Genetic Counseling,” originated in January 2012. As the newly hired project manager for the University of North Carolina-Chapel Hill's Clinical Sequencing Exploratory Research (CSER) consortium project, NCGENES, Myra had begun speculating just how the adaptation of Next Generation Sequencing (NGS) would affect genetic counseling practice (Roche 2012). Later that spring, at the American College of Medical Genetics meeting, the message that NGS would have an unprecedented impact on genetic counseling was delivered loudly and clearly but it seemed that too few of the voices sending that message belonged to genetic counselors. The idea behind this Special Issue is simply this: tap into the collective wisdom of the genetic counseling community to explore how NGS's clinical application would impact current genetic counseling practices and ponder future implications by providing a platform on which the voices of genetic counselors could be heard. Since it was still early in the adaptation phase, we suspected that few empirical studies analyzing NGS and genetic counseling would be completed in time for our submission deadline. Therefore, we decided to cast a wide net in order to capture a broader swath of the early adaptation experiences of genetic counselors as they transitioned from traditional approaches in testing, counseling, and training to what promised to be an exciting, if uncertain, future. We challenged our colleagues to think, discuss, and write about what they saw as the critical emerging issues facing our profession. We wanted to “crowd source” their ideas and hear about strategies to combine the essence of what our profession has always contributed with new, best practices for the future as we moved together towards Next Generation Genetic Counseling (NGGC). Our call for papers invited submissions describing the evolution of genetic counseling and education strategies relevant to whole genome or whole exome sequencing; counseling and ELSI issues specifically related to return of diagnostic and incidental results; and the role of the genetic counselor on multidisciplinary teams offering this testing. The diverse submissions in this issue successfully answered our call. They range from empirical studies analyzing such bread and butter topics as informed consent and return of results to case studies describing how practicing genetic counselors are grappling with these same issues in their clinics. Throughout, we have kept the focus on the genetic counselors themselves as they adapt to expanded niches and actively create new ones. In response to the initial concern that this call for papers might be a bit premature and thus might receive a muted response, this hefty issue delivers a resounding reply squashing any doubts that NGGC has become a hot topic in the genetic counseling community. We are pleased that so many genetic counselors and their colleague have answered this call. This completed issue includes an astonishing number of papers, 28 in all, representing both US and Canada. It includes 14 original research studies, ten professional development pieces, two case studies, one literature review and a book review. Submissions span both clinical and research populations, studying those that are healthy and those that are not, and they peer into the future though multiple lenses including those of practitioners, students, and program directors. Although the effects predicted by the adoption of genomic medicine have been likened to a tsunami, setting aside the hyperbole for a moment, how can we best measure and describe the magnitude of changes that will be required to adapt genetic counseling practice? Are the set of practices needed for successful NGGC so qualitatively different that a fundamental rebooting should be done, or are the bedrock issues sound enough that this newest technology can, once again, be incorporated with only a minimum amount of fuss? In the lead off article, Hooker and colleagues argue the predicted impact of this technology is unprecedented and they foresee far-ranging ripples that will touch our core counseling skills in areas such as facilitating informed consent, managing patient expectations, and tailoring results. In the second article, Wicklund and Trepanier choose, instead, to emphasize the soundness of our core skills, confident that these will enable us to navigate through the upcoming Class III rapids, but only if we also increase our dexterity and maneuverability. They foresee several threatening eddies along the way; namely, managing the increased volume of test results, developing new, reimbursable service delivery models, expanding the workforce, and ensuring an adequate foundation of outcomes research upon which to base our practice. One looming iceberg, already sighted by many as a formidable barrier blocking the smooth integration of NGS into clinical practice, is the massive effort required for variant analysis and interpretation that has, thus far, remained stubbornly resistant to a high throughput pace. Facio, Lee, and O'Daniel explore the largely uncharted territory surrounding current NGS technologies as they illustrate the clinical applications and predict their impact on the practice of genetic counseling. Their guide is particularly useful for genetic counselors who are beginning to populate the specialized niche of the molecular analyst but also serves as a useful reminder for everyone else that deeper knowledge of genomic sequencing will be essential for the competent practitioner of NGGC. We then turn to examine key issues that arise as genetic counseling practice transitions from experiences with genomic tests such as microarrays to clinical genomic sequencing. We open this section with a review article by Lohn et al. who examine one of the most contentious topics in clinical genomics; the return of incidental findings. Defined as “discoveries made as a result of genetic testing that are unrelated to the indication for the test,” the authors conclude that, although a consensus mandating the return of analytically valid and medically actionable incidental findings has begun to form, criteria about which types should be returned, and how to address the accompanying logistical and counseling issues, are still very much in flux. Their call for empirical studies to help guide these difficult decisions is answered, in part, in the next article by Reiff et al. in their study of health care providers. These voices capture the double-edged sword nature of the Faustian bargain we strike when we eagerly seize genomic testing's promise of increased diagnostic capability while blithely trying to ignore the growing millstone of obtaining informed consent for an increasing range of incidental findings. And though the scope of incidental findings grows with each technological advance, the case studies by Helm et al. gently remind us that one of the most fraught-laden pieces of genetic information is, incidentally, the type that could be revealed by very early techniques: the attribution of paternity. Their experiences of disclosing chromosomal microarray results consistent with first degree parental consanguinity is instructive both in what it tells us about families expectations about the true scope of potential results that genomic testing can reveal but also, sadly, about our often limited ability to adequately prepare them for this information. Machini and colleagues then whisk us away from the intimacy of the clinic to survey genetic counseling practice from 50,000 ft up. They examine ways in which clinical sequencing can be expected to impact our service delivery system and note several barriers to clinical adaptation. These obstacles range from a painfully familiar one (billing and reimbursement) to speculation about the degree to which our limited workforce capacity is exacerbated by our reliance on service delivery models that do not scale. In their calls for student and practitioner training, they also worry about the meager expertise in variant analysis and interpretation. Nardini et al. push the settings envelope one step further, to our next frontier; newborn screening. The authors optimistically conclude that, although experience with clinical sequencing in this setting has been limited, thus far, genetic counselors’ experience with sequencing in other settings should pave the way for a smoother learning curve when rolled out in the newborn setting. We then conclude with two analyses of genetic counseling practice. At the micro level, Williams et al. present a time analysis of one step in the process: that of acquiring and reviewing participants’ medical records prior to sequencing. Their estimates, an average of four months per participant and ranging between three and nine months, should surprise no one who has ever requested medical records in the US. As genomic sequencing intercalates itself into clinical practice, the relative value of this traditional approach will merit a re-evaluation, especially if sequencing costs precipitously decline. In contrast, Radford et al. focus on macro level issues and predict that access to services, insufficient reimbursement, and the threat of genetic discrimination will only worsen as demand for genetic testing grows. They propose that genetic counselors position themselves as information hubs and extend dendritically out to form community partnerships in order to magnify the limited availability of genetic expertise. Returning again to the high profile issue of establishing criteria for the return of incidental results, we next hear from both professionals and patients about how these decisions should be guided. For the professionals, the devil is indeed in the details. Asked by Grove and colleagues to “bin” or categorize several gene-variant pairs, professionals struggled to make consistent decisions about which results would merit obligatory return vs. those that would not. Although the study was completed before the American College of Medical Genetics and Genomics recommendations were released (Green et al. 2013), it confirms that criteria have evolved with clinical adaptation and that lack of unanimity amongst professionals is the rule rather than the exception. In developing evidence-based professional guidelines to help establish standards of care, we may need to re-define processes such as informed consent and result disclosure as events that occur over time and over the lifespan of the patient. Although professionals may be conflicted, patients, apparently, are not. Hitch et al. found that their Lynch syndrome patients, all who had received uninformative genetic testing results by traditional testing methods, held nearly unanimous preferences as to which types of genomic sequencing results should be returned: as one patient so colorfully phrased it, “Bring it on!” Levenseller et al. queried both professionals and families and identified similar discrepancies as professionals expressed much more hesitancy about the return of some findings. In an interesting twist, professionals aligned themselves more closely with the adolescents than the parents in this study believing that teens should be actively involved in decisions about disclosures pertaining to them. The parents surveyed by Erickson et al. likewise, took a similarly protective stance when asked about their interest in a hypothetical test that could tell them with 20–90 % accuracy the chance that their child would develop a mood disorder. While favoring testing if results were highly predictive, most responded that they would not communicate the results to the child at all (17 %), until symptoms began (17 %) or until the “child” turned 18 (25 %). Studies addressing if, when, and how parents communicate results to their children are sorely needed to determine if this will be one of those rare cases where hypothetical intention matches actual behavior. Even with wide open communication lines it can be instructive to learn which parts of a message are more likely to be garbled especially when relying on information delivery models that deviate from the traditional face-to-face encounter with a genetics professional. Schmindlen et al. uncovered evidence of several misunderstandings in their retrospective study of an on-line personalized medicine site that analyzed queries posted to the genetic counselors. Although only a small proportion of the tested population posed questions, those that did had trouble distinguishing between absolute and relative risks and showed a tendency to over-estimate the predictive power of the results. The understandings of those who did not post questions in this study remain unknown but these data would be useful in evaluating an on-line approach. Circling back to the clinic, we learn about a case described by Huang et al. that illustrates both the tantalizing potential and the messy realities of sequencing and interpreting multiple genes simultaneously. They identified potentially causative variants in, not one, but two genes in a patient with cone-rod dystrophy. As is true for many such variants, however, the avenues by which pathogenicity could be assessed were limited leaving the patient with ambiguous results and unclear recommendations. This predicament, uncomfortable as it is for both patient and counselor, will likely become more common as our skills in variant interpretation continue to lag far behind those in variant identification. The successful adoption of a new technology can depend upon the clinical setting and, as Machini et al. observed in their study, genomic sequencing was more likely to be ordered in a pediatric setting than in an oncology or a prenatal one. One reason for this discrepancy could stem from the traditions and goals of a practice within a discipline. In pediatrics, the primary goal is to identify the etiology of a condition and so diagnostic technologies, such as genome sequencing, are more readily accepted irrespective of their often-limited clinical utility. 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