Paternal Risk and Heritability

Module details

Title

Paternal Risk and Heritability

Type

Specialist

Module code

SLS333

Credits

10

Requirement

Compulsory

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.

Competencies

#	Learning outcome	Competency	Action
# 1	Learning outcome 1,3,4	Competency Communicate with male patients / couples / colleagues about heritable risk factors.	Action View
# 2	Learning outcome 1,2,3,4	Competency Lifestyle factors and exposures which pose heritable risk.	Action View
# 3	Learning outcome 2,3	Competency Communicate with potential sperm donors.	Action View

Assessments

You must complete:

• 2 case-based discussion(s)
• 2 of the following DOPS/ OCEs:

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

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.

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

Activities

• Critically review UK and international guidelines for gamete donation alongside the HFEA requirements and discuss with the medical lead for a donation service (as they currently provide final clearance for release for treatment of any  donor). Understand the need to assess the risks of transmission of a heritable condition.
• Attend the initial screening for a sperm donor (with the permission of donors). Gain awareness of the different genetic tests that may be performed, the information provided to the donor about these tests and his experience of the process including phlebotomy. Evaluate how the centre assesses genetic risk other than through limited laboratory testing. Evaluate your experience in terms of both the clinical decisions and donor experience/needs with particular reference to requirements the donor may have for support around findings of any test. Discuss with your supervisor and the local clinical team for the donor service.
• Attend a medical consultation for a couple considering fertility treatment where the male has a heritable problem (with the permission of patients) this could be a nurse consultation or follow-up consultation within the clinical setting of an  HFEA licensed treatment centre.
• Visit at least one clinical genetics service to review the different clinical settings where couples may find out about a heritable illness from the male and discuss this with the team at that service, this could be with a genetic counselor. Reflect on your experience in terms of the differentiation between their service and that of a reproductive science centre and consider how this influences your future practice.
• Visit at least one regional genetics laboratory to review the latest diagnostic techniques being used and discuss this with a member of the Clinical Science team at that service which they may feel may be relevant for a sperm donor. Reflect on your experience in terms of the differentiation between the evolution of testing available and the balance with risk in sperm donation.
• Attend multidisciplinary team meetings to participate in case discussion to review a wide range of clinical cases and describe the partnership between the reproductive science laboratory and other clinical specialisms in the investigation of infertility, for example Clinical Genetics.
• Select one case discussion and review in more detail, following patient progress and actual/potential outcomes, to include the clinical presentation, options considered, treatment provided and patient engagement and experience in the process.

 

• Become familiar with the laboratory quality management system in a diagnostic genetics laboratory, compare and contrast any differences to your other experience (applies as appropriate to all specialist modules).