Paternal Risk and Heritability (SLS333)

10 credits

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.

  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.
Number Work-based learning outcome Title Knowledge
1 1,3,4

Communicate with male patients / couples / colleagues about heritable risk factors.

View
2 1,2,3,4

Lifestyle factors and exposures which pose heritable risk.

View
3 2,3

Communicate with potential sperm donors.

View
You must complete
2 Case-based discussion(s)
2 of the following DOPS / OCEs
Assessment Title Type
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. DOPS
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. OCE

Important information

The academic parts of this module will be detailed and communicated to you by your university. Please contact them if you have questions regarding this module and its assessments. The module titles in your MSc may not be exactly identical to the work-based modules shown in the e-portfolio. Your modules will be aligned, however, to ensure that your academic and work-based learning are complimentary.

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.

Indicative Content

Governance, ethical, legal, and social implications of genetic and genomic testing

  • Current best practice from a Clinical Genetics service perspective in terms of patient and child / prospective child diagnosis
    • Implications of these decisions in accessing fertility treatment Different perspectives on testing from a patient viewpoint
  • How genetic testing results may influence fertility treatment choices
  • The role of the MDT in offering Fertility Treatments

 Ethical, legal, and social implications of sperm donation

  • Anonymous and non-anonymous donation
  • The importance of the provision of clear information and offer of counselling to patients as well as donors prior to
  • The current UK situation for donor children of different ages, tracing siblings and their
  • Religious and social perspectives on sperm donation and the impact of these on the
  • The impact of culture, equality and diversity on
  • The role and thoughts of the accepted and rejected sperm donor / unexpected diagnoses through
  • The role of the Counsellor in gamete donation (patient and donor perspectives)
  • Fatherhood perspectives in donation
  • The requirements of the Health and Care Professions Council

 Heritability of male infertility disorders and syndromes

  • The challenges and costs associated with rational risk and genetic diagnosis in donors
  • Ethnic differences in disease risk (eg CF / Beta Thal / Sickle Cell)
  • Examples including: Kartageners syndrome; XYY; Y Chromosome Deletions and rearrangements
  • Chromosomal translocations (including examples of common phenotypes and understanding of Uni-Parental Disomy risk).
  • Complex diseases and risk assessment (examples to include diabetes, epilepsy and mental health).
  • Assessment of other genetic risks (including all in current UK gamete donor screening guidelines).
  • Consanguinity and associated genetic risks

 Paternal Effects

  • Epigenetic effects and other paternally heritable / affected

 Standards, best practice guidelines

  • HFEA
  • UK Learned Society - Joint gamete donor screening guidelines
  • BAS
  • BICA
  • ABA
  • ESHRE
  • RCPath
  • EAU
  • The British Society for Genetic Medicine (and associated constituent organisations, including but not limited to Association for Clinical Genetic Science)
  • Reference to other International Guidelines such as ASRM should also be