Lecture 12- Psychological issues in genetics and the role of genetic counselling Flashcards
What are the psychological aspects of genetic testing?
- Individual perceptions and understanding of genetic information highly variable
- Motivations to have testing are complex
- Individuals and family members respond differently to testing, may need different levels of support
What are the aims of the lecture?
- possible challenges when talking about genetics and health
- psychosocial issues relevant to genetic testing
- the role of genetic counselling
- the importance of effective communication about genetics (communicating risk and facilitating decision‐making)
- the complexity of family communication about genetics
What are the issues with communicating about genetics?
- Decision‐making – choices made need to be accurately informed
- Genetic information is complex, frequently uncertain
- Communication often takes place at times of stress
What types of testing are there?
- Screening tests: E.g maternal serum screening, population screening, newborn screening
- Diagnostic tests: E.g amniocentesis and karyotyping of fetal cells during pregnancy
- Predictive tests: E.g hereditary breast and ovarian cancer, Huntington disease, haemochromatosis, inherited cardiac conditions
What are the factors impacting on decision-making?
- Cognitive ability
- Individual and lay perceptions
- Prior experiences
- Anxiety and well‐being
- Level of understanding of information
What sort of professions that communicate the results of genetic tests to patients?
- Range of health professionals
- Clinical geneticists
- Genetic counsellors
- Midwifes, nurses
- GPs, obstetricians and other medical specialists e.g oncologists, neurologists
What is genetic counselling?
- Relatively new profession
- “Delicate blend of art and science”
- Nondirective counselling stance, client‐centred counselling
-“The process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease”
Integrates the following:
- interpretation of family history
- education
- counselling to promote informed choices and adaptation to the risk or condition
What is the role of genetic counsellor?
- Provide appropriate, accurate and relevant information that can be understood
- Facilitate and support decision‐making
- Encourage individual deliberation
- Assist in adaptation to condition or test result
What is meant by an informed choice?
- Made freely (without coercion)
- Informed by accurate information that has been understood
- Consistent with individual values and beliefs – requires deliberation
PICG2What are the factors affecting risk perception?
- Individual psychological orientation towards risk
- Risk taking/risk averse, may change over time and in different situations, different stages of disease
- Characteristics of the risk itself
- How severe? How controllable?
- When will it happen?
- Perceived likelihood of risk occurring
- Representativeness bias
- Anchoring and adjustment
- Availability bias
How do you communicate risk?
- Presentation (framing) of recurrence risks may influence individual risk perceptions
- Multiple methods of presenting information helps individuals to clarify and determine personal meaning of information
What are the issues for genetic counsellor when dealing with familial breast cancer?
- Role of genetic counselling
- address grief/loss issues
- provide accurate risk information about breast cancer
- explore her perceptions/beliefs about the condition/tests/prophylactic surgery
- encourage deliberation
- prepare for test and disclosure of result
- follow up and discuss available options
- family communication
What are the issues for genetic counsellor when dealing with inherited cardiac condition?
-Role of genetic counselling
- allow Jane to tell her story
- address grief/loss issues
- provide relevant information at appropriate pace
- explore perceptions of condition/tests
- encourage deliberation
- prepare for test and disclosure of result
- followup
- further deliberation about surveillance/prophylaxis if gene positive
- role in family communication
What are the issues of communicating genetic information within families?
- Diagnosis of a genetic condition may have implications for other family members
- Responsibility of proband to communicate?
- Genetic counsellors can provide resources and support
What are the issues in family communication?
- Most research in area of inherited cancers
- Women more likely to present for testing
- Women more likely to pass on information to first degree relatives
- First degree relatives informed at higher rate than 2nd or 3rd degree
- 2nd and 3rd degree – once head of family notified then ‘duty discharged’
- Communication rates around 20%
- Relatives usually think most appropriate way is for family members to communicate with each other
- Some would like genetic counsellor to facilitate
- Human Genetics Society of AustralasiaHGSA) guidelines – inform clients that there may be implications for family members
- Provide explanatory letter
What are the barriers in family communication in play with genetic testing?
-Barriers
- lack of confidence
- difficult communication patterns
- burden of communicating genetic information
- “passive non‐disclosure”
Challenge ‐ find a way of making blood relatives aware of their risk without breaking patient confidentiality
What are the reproductive choices made possible by genetic technologies?
- Whether to
- have carrier screening before pregnancy?
- have children at all, and using whose gametes?
- have pre‐implantation genetic diagnosis? (PGD)
- have prenatal screening in pregnancy?
- have prenatal diagnostic testing?
- What to do following diagnosis of a genetic condition?
What is pre-implantation diagnosis?
- done with the IVF, at 8 cell stage remove 1 to 2 cells, can test those cells for genetic conditions
- the success of PGD is only about 30% so only one third get pregnant!
What are the statistics with prenatal testing?
- 4% background risk of fetal anomaly
- Access to testing varies btwn countries/healthcare systems
- ‘Routine’ part of pregnancy for many Australian women In Victoria (public and private) ~77,000 births/yr
- 1st or 2nd trimester maternal serum screening (MSS) and more recently Non‐Invasive Prenatal Testing (NIPT) of cell‐free DNA
- Fetal anomaly ultrasound (18‐22 weeks)
- Diagnostic testing for women >37yrs or at increased risk ~ 80% women have a non‐invasive screening test ~ 6% women have an invasive diagnostic test that increases risk of miscarriage
What is the cell-free DNA in Maternal Blood test?
- Cell‐free DNA (cfDNA) are short DNA fragments
- In pregnancy, cfDNA from both the mother and fetus are in maternal blood
- Amount of fetal cfDNA present is a small fraction of the maternal cfDNA
What is ultrasounds and serum screening?
- Ultrasonography +/‐ nuchal translucency
- Maternal serum screening for aneuploidy (Down syndrome)
-ltrasound at 12 weeks plus blood tests to establish risk of Down syndrome
What is the current victorian abortion law?
- Passed by state parliament Oct 2008
- Allows abortion up to 24 weeks ‘on demand’, provided a doctor agrees to perform it
- Allows abortion after 24 weeks, provided it is
– “appropriate in all the circumstances”
– taking into account “the woman’s current and future physical, psychological and social circumstances”
– And 2 doctors agree about this In practice, access to abortion varies between hospitals
What are the issues with participation in prenatal testing?
- Not always a conscious act
- May participate because it is ‘routine’
- Desire to obtain ‘reassurance’ rather than diagnosis (ultrasound scans)
- May participate to avoid ‘later regret’
What does abortion depend on?
- Abortion procedures
- Depends upon gestation
- Dilatation and curettage(D&C)
- Dilatationand Extraction(D&E)
- Inductionoflabour
How is decision-making difficult?
- Complex process
- Often less than optimal knowledge about tests and conditions being screened for
- Impact of anxiety
- ‘Tentative pregnancy’
- Health professionals’ knowledge and attitudes vary
- Decisions to be made about screening tests, diagnostic tests and abortion following prenatal diagnosis
What are the psychological and physical factors relating to these choices?
– Physical risk to pregnant woman
– Emotional/psychological risks and benefits to pregnant woman
– Physical risks to fetus
– Impact on existing children in the family
– Impact on relationship between woman and her partner
What are the issues with trisomy 13?
- Gemma chooses to continue the pregnancy, knowing that her baby will die in utero, or soon after birth.
- Why might Gemma have decided this?
- Is this a decision that society should support/encourage?
- Or seek to discourage? (eg should prenatal diagnosis only be offered to women who intended to terminate a pregnancy affected by serious or lethal condition?)
What is the role of genetic counsellor?
- clarify understanding of screening tests and the increased risk result
- explore her/her partners response to this result
- address anxiety
- provide information about diagnostic testing and conditions being tested for
- explain options following positive test results
- explore individual perceptions and feelings in order to facilitate informed choice
- support throughout testing/disclosure and beyond
What are the issues with achondroplasia?
-Anna and Steve both have achondroplasia and are of short stature. They attend a genetics clinic to request PGD to ensure that any child they have will also be of short stature. What options are available to Anna and Steve?
- PGD and selective implantation of affected embryo (? not available in Australia)
- Conceive naturally and abort unaffected pregnancies Should society support or permit this choice? (PGD or abortion of unaffected fetus)
- If not, why not?
- If yes, why?
Main messages?
- Be aware of challenges in communicating accurately and sensitively about genetics
- Remember that each individual may have different educational and psychological needs
- Effective communication important for informed decision‐making, adaptation and family functioning
