Krista Redlinger-Grosse

Siblings With Mitochondrial Acetoacetyl-CoA Thiolase Deficiency Not Identified by Newborn Screening

Screened for by all state newborn screening (NBS) programs in the United States, mitochondrial acetoacetyl-coenzyme A thiolase (T2), or β-ketothiolase, deficiency is a rare autosomal recessive disorder that causes ketoacidosis and hypoglycemia/hyperglycemia. Outcomes vary from normal development to severe cognitive impairment or even death after an acute episode of ketoacidosis. The classical biochemical profile of T2 deficiency is a result of null mutations in both alleles of the ACAT1 gene and consists of persistently increased urinary excretion of ketones, characteristic organic acids, and tiglylglycine as well as abnormal blood or plasma acylcarnitine profiles in acute and stable conditions. Early diagnosis and aggressive management can prevent further episodes of ketoacidosis and lead to normal development. We report the cases of 3 children, all subsequently found to have mutations predicted to be associated with no residual T2 enzymatic activity, but only 1 was identified by NBS in Minnesota since 2001. To our knowledge, this is the first description of compound heterozygotes for null mutations associated with no enzymatic activity exhibiting normal urinary organic acid, blood, and plasma acylcarnitine profiles when clinically well, thereby explaining the false-negative NBS results. We suggest that T2 deficiency may be underrecognized, because the incidence of T2 deficiency in Minnesota, on the basis of these 3 cases, is 1 in 232 000, higher than the reported <1 in 1 million incidence. Our cases emphasize that T2 deficiency must be considered in patients who present with ketoacidosis disproportionately severe to the triggering illness despite normal NBS results or nonspecific biochemical findings in blood and urine during asymptomatic periods.

Defining Our Clinical Practice: The Identification of Genetic Counseling Outcomes Utilizing the Reciprocal Engagement Model

The need for evidence-based medicine, including comparative effectiveness studies and patient-centered outcomes research, has become a major healthcare focus. To date, a comprehensive list of genetic counseling outcomes, as espoused by genetic counselors, has not been established and thus, identification of outcomes unique to genetic counseling services has become a priority for the National Society of Genetic Counselors (NSGC). The purpose of this study was to take a critical first step at identifying a more comprehensive list of genetic counseling outcomes. This paper describes the results of a focus group study using the Reciprocal-Engagement Model (REM) as a framework to characterize patient-centered outcomes of genetic counseling clinical practice. Five focus groups were conducted with 27 peer nominated participants who were clinical genetic counselors, genetic counseling program directors, and/or outcomes researchers in genetic counseling. Members of each focus group were asked to identify genetic counseling outcomes for four to five of the 17 goals of the REM. A theory-driven, thematic analysis of focus group data yielded 194 genetic counseling outcomes across the 17 goals. Participants noted some concerns about how genetic counseling outcomes will be measured and evaluated given varying stakeholders and the long-term nature of genetic concerns. The present results provide a list of outcomes for use in future genetic counseling outcomes research and for empirically-supported clinical interventions.

When the topic is you: genetic counselor responses to prenatal patients' requests for self-disclosure.

A limited amount of research indicates patient requests play a major role in genetic counselors’ self-disclosure decisions and that disclosure and non-disclosure responses to patient requests may differentially affect genetic counseling processes. Studies further suggest patient requests may be more common in prenatal settings, particularly when counselors are pregnant. Empirical evidence is limited however, concerning the nature of patient requests. This study explored genetic counselors’ experiences of prenatal patients’ requests for self-disclosure. Four major research questions were: (1) What types of questions do prenatal patients ask that invite self-disclosure?; (2) Do pregnant genetic counselors have unique experiences with prenatal patient disclosure requests?; (3) How do genetic counselors typically respond to disclosure requests?; and (4) What strategies are effective and ineffective in responding to disclosure requests? One hundred seventy-six genetic counselors completed an online survey and 40 also participated in telephone interviews. Inductive analysis of 21 interviews revealed patient questions vary, although questions about counselor demographics are most common, and patients are more likely to ask pregnant counselors questions about their personal pregnancy decisions. Participants reported greater discomfort with self-disclosure requests during pregnancy, yet also disclosing more frequently during pregnancy. Counselor responses included personal self-disclosure, professional self-disclosure, redirection, and declining to disclose. Factors perceived as influencing disclosure included: topic, patient motivations, timing of request, quality of counseling relationship, patient characteristics, and ethical/legal responsibilities. Disclosure practices changed over time for most counselors. Additional findings, practice implications, and research recommendations are discussed.

Cardiac conduction improvement in two heterozygotes for primary carnitine deficiency on L-carnitine supplementation

Sarafoglou K, Tridgell AHC, Bentler K, Redlinger‐Grosse K, Berry SA, Schimmenti LA. Cardiac conduction improvement in two heterozygotes for primary carnitine deficiency on l‐carnitine supplementation.

Elaboration of the Reciprocal-Engagement Model of Genetic Counseling Practice: a Qualitative Investigation of Goals and Strategies

As the genetic counseling field evolves, a comprehensive model of practice is critical. The Reciprocal-Engagement Model (REM) consists of 5 tenets and 17 goals. Lacking in the REM, however, are well-articulated counselor strategies and behaviors. The purpose of the present study was to further elaborate and provide supporting evidence for the REM by identifying and mapping genetic counseling strategies to the REM goals. A secondary, qualitative analysis was conducted on data from two prior studies: 1) focus group results of genetic counseling outcomes (Redlinger-Grosse et al., Journal of Genetic Counseling, 2015); and 2) genetic counselors’ examples of successful and unsuccessful genetic counseling sessions (Geiser et al. 2009). Using directed content analysis, 337 unique strategies were extracted from focus group data. A Q-sort of the 337 strategies yielded 15 broader strategy domains that were then mapped to the successful and unsuccessful session examples. Differing prevalence of strategy domains identified in successful sessions versus the prevalence of domains identified as lacking in unsuccessful sessions provide further support for the REM goals. The most prevalent domains for successful sessions were Information Giving and Use Psychosocial Skills and Strategies; and for unsuccessful sessions, Information Giving and Establish Working Alliance. Identified strategies support the REM’s reciprocal nature, especially with regard to addressing patients’ informational and psychosocial needs. Patients’ contributions to success (or lack thereof) of sessions was also noted, supporting a REM tenet that individual characteristics and the counselor-patient relationship are central to processes and outcomes. The elaborated REM could be used as a framework for certain graduate curricular objectives, and REM components could also inform process and outcomes research studies to document and further characterize genetic counselor strategies.

A Different Vantage Point: Commentary on “Theories for Psychotherapeutic Genetic Counseling: Fuzzy Trace Theory and Cognitive Behavior Theory”

Raised in a psychosocial model of genetic counseling, I have long believed that understanding and addressing our patients’ psychological needs are critical to our role as genetic counselors. As such, I was pleased to see Biesecker et al.(2016) article, BTheories for psychotherapeutic genetic counseling: Fuzzy trace theory and Cognitive Behavior Theory^ and their presented framework for how to apply psychological theories to genetic counseling practice. I wholeheartedly agree that the use of a counseling approach to guide our interactions will enrich our work for both patients and also for genetic counselors as professionals. Where I disagree, however, is Biesecker et al.‘s argument for the adoption of a practice descriptor or Bmoniker^ of Bpsychotherapeutic genetic counseling.^ Having practiced in both worlds, psychotherapy and genetic counseling, I struggle with their assertion and find myself wondering, are we looking at the same end goal, but from a different vantage point? In this commentary, I offer an alternative perspective in hopes of continuing the conversation of how to best meet our patients’ psychological needs. First, let me describe my professional path and acknowledge my biases. After working for 10 years as a genetic counselor in prenatal and metabolic settings, I began to sense a desire – both personally and professionally – to more deeply address the complex emotional needs of genetic counseling patients. With much consideration, I chose to return to school to pursue a PhD in Counseling Psychology. My goal was never to trade in my genetic counseling Bhat^ for that of a psychologist; rather, I hoped to integrate these two professions through additional training that would foster the adoption of a psychological lens in which to view the needs of genetic counseling patients. I admit that my journey is still evolving. Yet, I do know, having practiced in both professional worlds, that genetic counseling and psychotherapy share fundamental distinctions which warrant acknowledgement. First, however, it is important to recognize areas of professional overlap. Genetic counselors and psychotherapists both approach clients in a relational, personcentered manner. Psychoptherapists and genetic counselors build positive working alliances using complementary skill sets and strategies (e.g., basic and advanced counseling skills, building rapport, supporting patients/clients, etc.). At the center of the Reciprocal Engagement Model (REM) of genetic counseling practice is the tenet, BRelationship is Integral to Genetic Counseling,^ surrounding it are tenets that support the importance of a patient’s resiliency and acknowledgement of their emotions (McCarthy Veach et al. 2007). As Biesecker et al. (2016) present in their paper, psychological theories offer genetic counselors a framework for assessment and interventions that allow us to better understand and support our patients. This can potentially lead to better patient outcomes. Austin et al. (2014) have similarly argued, B...meeting the emotional needs of clients is strongly associated with better psychological results, which in turn can support knowledge-based outcomes^ (p. 905). Thus, I share and emphatically endorse a stance that acknowledges the professional connections between genetic counselors and psychologists, especially as it supports a psychological approach to genetic counseling. 1 Herein, I use the term psychotherapist to include doctoral level psychologists, as well as other mental health professionals trained and licensed to provide psychotherapy. * Krista Redlinger-Grosse redli009@umn.edu

Uncomfortably Content: My Journey Back to School

Armed with my backpack, a bus pass and a similar set of anxieties, I started school this year on the same day as my children. Ironically, however, our shared, educational right of passage was, for me, a choice. This choice was the result of careful deliberation, soul searching, and a love of the genetic counseling profession. My decision to leave a position as a prenatal and metabolic genetic counselor after almost 10 years in the field in order to embark on a PhD in Counseling Psychology was in no way easy but in many ways necessary. Over the years, I began to notice my passion for genetic counseling waivering. Raised in a psychosocial model of genetic counseling, I have always valued the fundamental need to address our patients’ counseling concerns that accompany the genetic information. Through the years, however, I became increasingly restless trying to balance my dual roles as counselor and educator. I knew there were complex emotional and supportive needs that begged for my attention and yet, they seemed to be overshadowed by the logistical constraints set by the clinic and perhaps more alarmingly, by self-imposed constraints set by my beliefs about what I could do. Additionally, there were a multitude of research questions stemming from my clinical work that time and training prohibited me from answering. Quite simply, I wanted to do more. I once heard someone say, “When you become comfortable, it is time to move on.” Thus, I was faced with a defining question—would I or could I trade a comfortable, valued job to explore my inner suspicions that there was more I could do to broaden my role as a genetic counselor and more importantly, my love of the profession? This question, while at first intimidating, became inspiring, and as that shift occurred, I knew the answer was inevitable. I didn’t want to get too comfortable doing what I loved. It was with this realization that I returned to the world of exams and papers. While I am just one academic year deep into this journey, this path has made me uncomfortably challenged both personally and professionally. As I anticipated, going back to school has been personally uncomfortable. I just hadn’t realized in how many ways. With a family that includes three young children and my inability to function coherently past ten o’clock, I knew my return to school would not be easy. I have spent the year completing assigned readings while waiting in the carpool line to pick up my children, and used up many hours figuring out new educational technologies that involve skyping and web-based discussions. I have shed tears while trying to choose between studying for a statistics exam and reading “one more story” to my daughter. I have, and continue to have, anxiety that my decision, while personally meaningful, is taking a selfish toll on my family. These are the types of challenges I expected, and yes, I chose to read the story. The unexpected challenges involve the ways in which I have been personally tested to re-examine areas in which I need to continue growing as a counselor. My genetic counseling training program taught me the importance of self-awareness and reflective practice, and for that I am grateful. As I left the safety net of weekly supervision and entered the realities of a busy clinical setting with patients J Genet Counsel (2012) 21:226–227 DOI 10.1007/s10897-011-9448-8