Regional Coordinator for Genomic Results in Newborn Screening

3 weeks ago


London, Greater London, United Kingdom Guy's and St Thomas' NHS Foundation Trust Full time

Position Overview

An exceptional opportunity is available for a Regional Coordinator focused on the results of the Generation Study, situated within the South East Genomic Medicine Service.

The Generation Study represents a pivotal UK research initiative, spearheaded by Genomics England (GEL), aimed at assessing the clinical value, advantages, challenges, and logistics of implementing whole genome sequencing as a screening method for approximately 250 treatable genetic disorders in newborns. This initiative seeks to enhance diagnostic processes and expedite access to treatments for rare genetic conditions.

This newly created position will collaborate with GEL and clinical teams to ensure that infants and their families receiving a 'suspected condition' result from the study experience a seamless transition to the NHS for confirmatory testing and, if necessary, appropriate care and support pathways, thereby facilitating timely diagnosis and treatment with a direct influence on clinical outcomes.

Key Responsibilities

Operating at a regional level, the incumbent will be instrumental in managing the results pathway of the Generation Study for patients enrolled in the South East. Acting as the primary contact for 'condition suspected' results, they will liaise closely with Genomics England, local recruiting Trusts, and the Evelina London as the main referral center, ensuring a smooth transition from research study to NHS care. This includes collaboration with NHS newborn screening services and providing essential support to families throughout the results return process.

The role will also involve working alongside the South East GMS Generation Study team and local research teams to foster consistent care approaches across the region, developing robust referral pathways, monitoring activities, and capturing outcomes to inform the study and enhance patient care quality.

About the Organization

This position is hosted within the South East Genomic Medicine Service (GMS), one of seven regional services dedicated to advancing genomic medicine and research. The service collaborates with regional Clinical Genetics Services to implement standardized genomic testing pathways and integrate genomic medicine into routine healthcare, aiming to minimize unwarranted variations and improve patient outcomes through the application of genomic advancements.

The role is situated within a healthcare environment that provides comprehensive services for children, young people, and women, ensuring high-quality, integrated care.

Qualifications and Experience

Essential:

  • Registered Nurse, Midwife, or Genetic Counsellor with relevant professional registration.
  • Proven knowledge and experience in genomics, clinical genetics, or NHS screening programs.
  • Experience in collaborative work across various organizations to achieve shared objectives.
  • Background in developing and delivering educational initiatives for clinical personnel.
  • Experience working with patients and families affected by inherited or rare conditions.

Skills

Essential:

  • Exceptional communication and interpersonal skills, capable of engaging with a diverse range of stakeholders.
  • Proficiency in IT, including MS Office and familiarity with hospital database systems.


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