Genetic Counseling in the Era of Genomics: What's all the Fuss about?

Many parents are motivated to pursue genome‐wide (exome or genome) sequencing to find a diagnosis for their child with a suspected but undiagnosed genetic condition. However, the impact of the genomic test extends beyond the provision of results and the so‐called ‘diagnostic odyssey’. Our goal was to quantify post‐test decisional regret and characterize long‐term, post‐test experiences and unmet needs of the parents of children with suspected genetic diseases after they had received the results of genome‐wide sequencing. Study participants were parents of children who underwent trio genome‐wide sequencing as part of the CAUSES research study at Children's & Women's Health Centre of British Columbia. About half of the participants received a definite or likely genetic diagnosis after clinical interpretation of the genome‐wide sequencing results. Parents who participated in the current study (n = 121) completed the Decisional Regret Scale four weeks after receiving results. A subset of these parents (n = 32) had semi‐structured interviews a median of 7 months (range 3–20 months) after results disclosure and post‐test genetic counseling. Most parents expressed either no regret or mild regret about having undergone genome‐wide sequencing on both the Decisional Regret Scale and in the interviews. Parents whose children did not receive a genetic diagnosis were slightly more likely to have decisional regret on this quantitative scale. Analysis of transcribed interviews revealed the following major themes: (a) a lack of decisional conflict around having the testing; (b) a lack of decisional regret post‐testing; (c) expressions of both relief and continued uncertainty around the meaning of a genetic diagnosis; (d) expression of initial disappointment and evolving interpretation surrounding a result yielding no genetic diagnosis; and (e) needing time to absorb the test results. Our results suggest that parents need time to absorb the testing results and that long‐term post‐test counseling, including acknowledging feelings of relief, loss, and disappointment, may help parents adapt to the genomic test results and assist families to anticipate and plan for the next steps in their child's medical trajectory, whether or not a diagnosis is found.

Section: Discussionsupporting

confidence: 91%

After genomic testing results: Parents’ long‐term views

Liang

Adam

Elliott

et al. 2021

“…As genomic sequencing has become available in pediatric clinical genetics settings, genetic counselors have been called upon to support individuals and families through the testing process (Brett et al, ; Facio, Lee, & O'Daniel, ; Hooker, Ormond, Sweet, & Biesecker, ; Ormond et al, ; Patch & Middleton, ). The importance of pretest counseling for facilitating informed consent to genetic and genomic testing has been established (ACMG Board of Directors, ; Arora, Haverfield, Richard, Haga, & Mills, ; Bowdin, Hayeems, Monfared, Cohn, & Meyn, ; Uhlmann, Schuette, & Yashar, ).…”

Section: Introductionmentioning

confidence: 99%

Genetic counseling in pediatric acute care: Reflections on ultra‐rapid genomic diagnoses in neonates

Ayres

Gallacher

Stark

et al. 2019

As genomic sequencing has become available in pediatric clinical genetics settings, genetic counselors have been called upon to support individuals and families through the testing process. Technological and bioinformatic advancements, along with the availability of analytical expertise, have significantly reduced genomic sequencing turnaround times, enabling this powerful diagnostic tool to be used in neonatal intensive care units (NICUs) in place of or alongside traditional diagnostic strategies. It is important that pretest counseling for genomic sequencing prepares parents of critically unwell infants for the potential impacts of achieving a diagnosis, such as rare or ultra‐rare diagnoses with limited disease‐specific information, or the diagnosis of a life‐limiting condition. Genetic counseling experiences and challenges arising in rapid genomic sequencing settings are yet to be discussed in the literature in detail. This paper uses illustrative cases as the basis to describe and discuss the emerging role of genetic counselors in NICU multidisciplinary care teams and the challenges and considerations which arise when facilitating ultra‐rapid genomic diagnoses in acutely unwell neonates. Counseling issues discussed include providing pre‐ and posttest counseling in the medicalized NICU setting, facilitating informed decision‐making at a time of acute distress for families, and special considerations around the possibility of ultra‐rare diagnoses in neonates at the beginning of their diagnostic trajectory. As technology continues to drive practice, it is important genetic counselors remain abreast of these issues in order to appropriately support families through the genomic sequencing process and beyond.

“…Some have argued that genomic medicine will result in significant changes to genetic counseling practice (Ormond, 2013), whereas others suggest that GCs already possess the skills required to practice when this new technology is applied (Brett et al., 2018). Either way, GCs are likely to play a vital role in managing the expectations of both health professionals and patients with regard to genomic sequencing (Brett et al., 2018; Hooker et al., 2014). With any new technology, hopes can exceed reality; this is particularly true for genomic technologies in pediatric acute care (Fenn & Raskino, 2008).…”

Section: Introductionmentioning

confidence: 99%

Rapid acute care genomics: Challenges and opportunities for genetic counselors

Lynch

Nisselle

Gaff

et al. 2020

Genomic medicine in pediatric acute care is showing great promise, with rapid results from exome and genome sequencing returned within days providing critically important information for treatment and management of seriously ill children. Many have suggested that rapid acute care genomics presents novel genetic counseling issues. This is due to the need for rapid response to referrals, the immense emotional distress that parents are likely to experience when their child is in acute care, and the unfamiliar environment of the acute care setting. To explore the practice of genetic counselors in this setting, we conducted qualitative interviews with 16 genetic counselors (GCs), representing a large proportion of GCs at the frontline of providing genetic counseling in acute care settings in Australia. Interviews revealed themes describing genetic counseling in acute care, including practical challenges of counseling within a rapid turnaround time, similarities with other contexts such as prenatal counseling, and the need for education of other health professionals. Interestingly, GCs did not raise concerns in the interviews for parents’ ability to provide informed consent for rapid genomic sequencing. GCs also encountered practical and organizational challenges with counseling in this setting where 24‐hr care is provided, at odds with traditional ‘9 to 5’ Genetics service delivery. Working closely in a multidisciplinary team was common and participants believed that GCs are well positioned to take a leading role in the education of other health professionals as rapid acute care genomics becomes routine clinical practice. Despite views that genetic counseling practice in rapid acute care genomics is unique, these exploratory data suggest that GCs are flexible, adaptable, and sufficiently skilled to deliver patient‐centered counseling in this setting. Our work indicates GCs are ready and willing to contribute at an early stage of adoption of genomic investigations in acute care.