Literature DB >> 33238072

Rapid acute care genomics: Challenges and opportunities for genetic counselors.

Fiona Lynch1,2,3, Amy Nisselle1,2,3, Clara L Gaff1,2,3,4, Belinda McClaren1,2,3.   

Abstract

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.
© 2020 National Society of Genetic Counselors.

Entities:  

Keywords:  acute care; genetic counseling; genetics services; genomics; pediatrics; qualitative

Year:  2020        PMID: 33238072     DOI: 10.1002/jgc4.1362

Source DB:  PubMed          Journal:  J Genet Couns        ISSN: 1059-7700            Impact factor:   2.537


  3 in total

Review 1.  Rapid genomic testing for critically ill children: time to become standard of care?

Authors:  Zornitza Stark; Sian Ellard
Journal:  Eur J Hum Genet       Date:  2021-11-08       Impact factor: 4.246

2.  Parents' experiences of decision making for rapid genomic sequencing in intensive care.

Authors:  Fiona Lynch; Amy Nisselle; Zornitza Stark; Clara L Gaff; Belinda McClaren
Journal:  Eur J Hum Genet       Date:  2021-08-23       Impact factor: 4.246

3.  'Diagnostic shock': the impact of results from ultrarapid genomic sequencing of critically unwell children on aspects of family functioning.

Authors:  Hilary Bowman-Smart; Danya F Vears; Gemma R Brett; Melissa Martyn; Zornitza Stark; Christopher Gyngell
Journal:  Eur J Hum Genet       Date:  2022-07-13       Impact factor: 5.351

  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.