研究代谢遗传学工作者的角色、挑战和机遇。

IF 1.7 4区 生物学 Q3 GENETICS & HEREDITY American Journal of Medical Genetics Part A Pub Date : 2024-10-01 DOI:10.1002/ajmg.a.63889
Kara Simpson, Stephanie Offord, Chanel Suares, Jerry Vockley
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引用次数: 0

摘要

代谢遗传门诊是治疗先天性代谢异常和其他复杂遗传病患者的重要枢纽。由于诊断范围(包括新生儿筛查)的扩大,越来越多的患者被发现,而且随着治疗方法的改进,患者的寿命也在延长,因此多学科代谢遗传学团队面临着如何按比例发展以满足患者需求的挑战。该领域的招聘率不足和自然减员率上升导致人们担心代谢遗传学医护人员的短缺问题日益严重,因此有必要采取创造性的解决方案来壮大医护人员队伍。在此,我们介绍了多学科代谢遗传学团队的角色和职责,并阐述了在这个瞬息万变的领域中支持患者护理和促进临床医生工作与生活平衡的机会。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Examining Roles, Challenges, and Opportunities Within the Metabolic Genetics Workforce

The metabolic genetics clinic is a crucial hub for the management of patients with inborn errors of metabolism and other complex genetic conditions. Because more patients are being identified due to the expanded diagnostics, including newborn screening, and living longer with the advent of improved therapies, the multidisciplinary metabolic genetics team has been challenged in growing proportionally to meet patients' needs. Insufficient rates of recruitment to the field and increased levels of attrition have led to concerns about a rising shortage of metabolic genetics health care providers and necessitate creative solutions to grow the workforce. Here, we describe the roles and responsibilities of the multidisciplinary metabolic genetics team and describe opportunities to support patient care and promote clinician work–life balance in a rapidly changing field.

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来源期刊
CiteScore
3.50
自引率
5.00%
发文量
432
审稿时长
2-4 weeks
期刊介绍: The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A , AJMG also publishes two other parts: Part B: Neuropsychiatric Genetics , covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders. Part C: Seminars in Medical Genetics , guest-edited collections of thematic reviews of topical interest to the readership of AJMG .
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