Lecture 12- Psychological issues in genetics and the role of genetic counselling

Question 1

What are the psychological aspects of genetic testing?

Answer 1

• 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

Question 2

What are the aims of the lecture?

Answer 2

• 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

Question 3

What are the issues with communicating about genetics?

Answer 3

• Decision‐making – choices made need to be accurately informed
• Genetic information is complex, frequently uncertain
• Communication often takes place at times of stress

Question 4

What types of testing are there?

Answer 4

1. Screening tests: E.g maternal serum screening, population screening, newborn screening
2. Diagnostic tests: E.g amniocentesis and karyotyping of fetal cells during pregnancy
3. Predictive tests: E.g hereditary breast and ovarian cancer, Huntington disease, haemochromatosis, inherited cardiac conditions

Question 5

What are the factors impacting on decision-making?

Answer 5

• Cognitive ability
• Individual and lay perceptions
• Prior experiences
• Anxiety and well‐being
• Level of understanding of information

Question 6

What sort of professions that communicate the results of genetic tests to patients?

Answer 6

• Range of health professionals
• Clinical geneticists
• Genetic counsellors
• Midwifes, nurses
• GPs, obstetricians and other medical specialists e.g oncologists, neurologists

Question 7

What is genetic counselling?

Answer 7

• 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

Question 8

What is the role of genetic counsellor?

Answer 8

• 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

Question 9

What is meant by an informed choice?

Answer 9

• Made freely (without coercion)
• Informed by accurate information that has been understood
• Consistent with individual values and beliefs – requires deliberation

Question 10

PICG2What are the factors affecting risk perception?

Answer 10

• 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

Question 11

How do you communicate risk?

Answer 11

• 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

Question 12

What are the issues for genetic counsellor when dealing with familial breast cancer?

Answer 12

• 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

Question 13

What are the issues for genetic counsellor when dealing with inherited cardiac condition?

Answer 13

-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

Question 14

What are the issues of communicating genetic information within families?

Answer 14

• Diagnosis of a genetic condition may have implications for other family members
• Responsibility of proband to communicate?
• Genetic counsellors can provide resources and support

Question 15

What are the issues in family communication?

Answer 15

• 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

Question 16

What are the barriers in family communication in play with genetic testing?

Answer 16

-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

Question 17

What are the reproductive choices made possible by genetic technologies?

Answer 17

• 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?

Question 18

What is pre-implantation diagnosis?

Answer 18

• 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!

Question 19

What are the statistics with prenatal testing?

Answer 19

• 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

Question 20

What is the cell-free DNA in Maternal Blood test?

Answer 20

• 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

Question 21

What is ultrasounds and serum screening?

Answer 21

• Ultrasonography +/‐ nuchal translucency
• Maternal serum screening for aneuploidy (Down syndrome)

-ltrasound at 12 weeks plus blood tests to establish risk of Down syndrome

Question 22

What is the current victorian abortion law?

Answer 22

• 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

Question 23

What are the issues with participation in prenatal testing?

Answer 23

• 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’

Question 24

What does abortion depend on?

Answer 24

• Abortion procedures
• Depends upon gestation
• Dilatation and curettage(D&C)
• Dilatationand Extraction(D&E)
• Inductionoflabour

Question 25

How is decision-making difficult?

Answer 25

• 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

Question 26

What are the psychological and physical factors relating to these choices?

Answer 26

– 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

Question 27

What are the issues with trisomy 13?

Answer 27

• 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?)

Question 28

What is the role of genetic counsellor?

Answer 28

• 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

Question 29

What are the issues with achondroplasia?

Answer 29

-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?

Question 30

Main messages?

Answer 30

• 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