Module - Paternal Risk and Heritability (SLS333)

STP

Aim of this module

This module will provide the trainee with the knowledge and understanding of paternal risk and heritability including the role of genetics, epigenetics, genomics, clinical bioinformatics and personalised medicine. Quality assurance, governance, ethical, legal and social implications of genetic and genomic testing will be explored. Clear understanding should be gained of the role that genetics and epigenetics may have in child health and considerations this gives in provision of fertility treatment approaches or guiding patients considering natural conception. Trainees should gain insight into patient and donor perspectives in these processes.

Work-based learning outcomes

  1. Gather a clinical history for a patient, including relevant genetic and heritable risks.
  2. Gather a history from a potential sperm donor.
  3. Evaluate the risk of affecting offspring for different heritable conditions exercising their own professional judgement.
  4. Review a set of notes to link the cause of infertility with a genetic factor and produce an interpretive report of the investigations with a suggested treatment plan.
  5. Critically evaluate a range of sources of information on patient and regulatory perspectives with regard to genetic risks and reproductive options, present a summary and justify recommendations.

Work-based Competencies

Learning outcome Title Knowledge
1 1,3,4

Communicate with male patients / couples / colleagues about heritable risk factors.
  • The importance of using an appropriate interpreter, wherever possible.
  • The process of securing the services of an interpreter/interpretation service.
  • Confidentiality and the limits of the concept of confidentiality.
  • How to recognise and respond appropriately to situations where it is necessary to share information to safeguard service users or the wider public.
  • Management of records and all other information in accordance with applicable legislation, protocols and guidelines.
  • Genetic diseases particularly those which are male specific.
  • Y Chromosome deletions and rearrangements
  • Cystic fibrosis, which mutations are tested and which are causes of congenital bilateral absence of the vas. deferens (CBAVD). Associated risks for fertility treatment and suggested female screening.
  • Common genetic mutations causing endocrine disease.
  • Genetic counseling and Regional Genetic Centre support.
  • The importance of working, where appropriate, in partnership with service users, other professionals, support staff and others.
  • The need to engage service users and carers in planning and evaluating diagnostics, treatments and interventions to meet their needs and goals
2 1,2,3,4

Lifestyle factors and exposures which pose heritable risk.
  • Chemotherapy and radiotherapy, associated mutagenic and teratogenic risks and guidance for patients.
  • The effects of age, diet and obesity on the sperm genome.
  • Assess the evidence around the effects of
    • Smoking
    • Alcohol
    • Illegal drug use (e.g. cannabinoids)
    • Performance enhancing drugs (i.e. steroids)
  • Emerging evidence, including from animal data, around paternally-heritable epigenetic effects.
3 2,3

Communicate with potential sperm donors.
  •  Confidentiality and the limits of the concept of confidentiality.
  • How to recognise and respond appropriately to situations where it is necessary to share information to safeguard service users or the wider public.
  • How to adapt practice to meet the needs of different groups and individuals.
  • Management of records and all other information in accordance with applicable legislation, protocols and guidelines.
  • The HFEA regulations with regard to sperm donation.
  • The genetic and transmissible heritable diseases being screened for and ability to discuss possible likelihood of these prior to donor consenting to take test.
  • The transmissible bacterial, viral diseases being screened for and ability to discuss possible likelihood of these prior to donor consenting to take test.
  • How the risk of prion disease is assessed.
  • The genetic diseases / methods of heritability screened in standard screening, including but not limited to:
    • Prevalent monogenic disease
    • Chromosomal rearrangements, when and how they occur, possible effects on fertility and inheritance.
    • Diabetes
    • Mental health illness

Work-based assessment

Complete 2 Case-Based Discussion(s)
Complete 2 of the following DOPS and/or OCEs
Type Title
DOPS Take a clinical history from a couple, including relevant genetic and heritable risks.
DOPS Gather a history from a potential sperm donor
DOPS Obtain consent from a patient / donor for further genetic testing, taking into account best practice guidelines related to genetic tests.
OCE Evaluate and discuss the risks of consanguinity in reproduction.
OCE Evaluate the potential effects on a sperm donor / patient of unexpected findings about their genetics. Discuss with your team how these relate to best practice locally.
OCE Evaluate the risk, ethical and social factors related to ART for couples offspring where the man has known Y-deletions, but still some spermatogenesis and discuss with colleagues.
OCE Evaluate the risk of different heritable conditions in different potential donors / patients, including a background assessment of how ethnic background may affect screening for these. Discuss with relevant team.
OCE Evaluate options for couples seeking ART with a known genetic risk, including but not limited to from a regulatory and ethical perspective. Justify your summary recommendations to your team.