Screening and diagnosis of genetic conditions in ART

Details

Title

Screening and diagnosis of genetic conditions in ART

Type

Stage Two

Module code

HLS362

Requirement

Compulsory

Module objective

By the end of the training period trainees will, in respect to the prenatal screening and diagnosis of genetic conditions in ART, be able to:

• analyse, synthesise, evaluate and apply knowledge
• perform, adapt and master a range of technical and clinical skills and procedures
• demonstrate the attitudes and behaviours necessary for professional practice as a consultant clinical scientist dealing with the complexities, uncertainties and tensions of professional practice at this level.

Knowledge and understanding

By the end of the training period the trainee will be able to demonstrate the ability to analyse, evaluate and synthesise relevant knowledge and its application to their professional practice in relation to the predisposing factors, presentation, differential diagnoses and management of the specific genetic practice in ART including:

• inheritance of genetic disease including epidemiology, risk factors and clinical presentation.
• principles of genetically testing gametes and embryos at all stages of pre-implantation development.
• advantages and disadvantages of pre-implantation screening/diagnosis
• genetic conditions that can affect fertility and appropriate ART treatments
• interpret genetic testing results for patients and embryos and refer for genetic counselling when required
• genetic testing of embryos within current regulatory frame works
• clinical evidenced based services for genetic diagnosis/screening and make judgements on the suitability of treatment options
• emerging research for development of genetic services in ART including the need for oocyte and embryo biopsy.

Technical and clinical skills

By the end of the training period the trainee will be able to demonstrate a critical understanding of current relevant research, theory and knowledge and its application to the performance, adaptation and mastery of the following skills:

• employing genetic testing where appropriate.

By the end of the training period the trainee will be able to apply knowledge of prenatal screening and the diagnosis of genetic conditions to perform, adapt and master the clinical skills necessary to manage to:

• make suitable diagnoses and recommendations from genetic information acquired from the patient, their gametes, and embryos.