genetic counselling Flashcards
what is genetic counselling?
it is a process of communication that deals with the problems associated with the occurrence or risk of occurrence of genetic disorders in a family
what are the dimensions considered in genetic testing?
practical, psychosocial, emotional, ethical
what is the practical dimension?
screening, prevention, testing, preparation and family planning
what are the ethical considerations of screening?
autonomy, beneficence, non maleficence, justice, non directiveness
what are the psychosocial considerations of testing?
preparation, contact with other families and agencies, balanced information and adjustment
what are some issues for individuals?
guilt, extended family and reproductive implications, genetic testing and adjustment to a risk status
what are the issues for the genetic counsellors?
limitations to knowledge, technology, outcome measures, services and guidelines emotional toll confidentiality consent disclosure or proactivity neutrality
what are the aims of the genetic counsellors?
understand and communicate medical facts, understand the inheritance mechanism and the risk of reccurrence, understand the options and appropriate course of action and make the individual have the best possible adjustment to the status
what can genetic testing be used for?
diagnostic predictive pre natal pre conception generic mendelian conditions such as haemochromatosis or chromsomal conditions such as Down Syndrome family Hx of cancer prenatal clinic specific clinics for certain conditions such as HDD or neurofibromatosis
what is pre conception testing?
it is a pre implantation genetic diagnosis where there are IVF techniques to produce embryos which can be tested to see which are affected
what information is required for genetic testing?
medical and social history and diagnosis including the age. The information given to the individual must include the confirmation of the diagnosis, the genetic test reports, information on condition, inheritance and recurrence and the choices for screening, reproduction and testing
what condition can result in infertility?
CF, Klinefelters
what can a prenatal diagnosis result in?
termination of pregnancy and loss of planned parenthood
in adulthood when is genetic testing done?
after they have been confirmed to have inherited a faulty gene or notice symptoms
when does survival guilt occur?
when the predictive test is a good result
what are the issues in families around positive results?
refusal to tell other members, refusal to give consent for medical information, guilt and blame and stigma
what are the ethical issues facing genetic testing?
culture and religion, consanguinity, belief in science, pressures to have children, language, assumptions around certain ethnic groups
what are the characteristics of Fx of cancer?
high percentage of referrals - use questionnaires, risk categories, predictive and diagnostic testing with screening and surgical options
what is the BRCA mutation?
it is an AD mutation that results in adult onset cancers giving a predisposition due to tumour supressor genes to breast, ovarian, prostate, pancreatic and melanoma
what are the options for BRCA mutations?
screening and prophylactic surgery
what are the types of inherited conditions for cardiac?
cardiomyopathies, channelopathies, sudden death and syndromic
what is hypertrophic cardiomyopathy?
it is an AD condition where there is the thickening of heart muscle due to the abnormal pattern of heart muscle cells. This can result in obstruction to the valves, or affect the heart rhythm or neither. It is not necessarily the same as hypertrophy
what is the management of hypertrophic cardiomyopathy?
there are lifestyle implications - medications, implantable devices and surgery and screening from around 10-12
what is the risk of hypertrophic cardiomyopathy?
small risk of sudden death due to cardiac arrhythmia
what is congenital deafness?
it is a congenital conditions with 50% of cases genetic and the other 50% from prematurity, infection or other causes. Of the genetic, 30% are syndromic and 70% not syndromic.
what is the mode of inheritance for non syndromic?
75-80% recessive, 10-15% dominant, 5-10% X linked or mitochondrial
how can congenital deafness be identified?
new born screening
what is an issue of prelingual hearing loss?
90% are born to hearing parents and therefore this makes is very hard to communicate due to severe or profound hearing loss
what types of prenatal diagnosis are there?
CVS/amniocentesis, NIPD, gender identification (important for XL) at around 7 weeks - molecular diagnosis can provide options of prenatal diagnosis
how can females be affected by XL?
skewed X inactivation
what is PGD?
it is selective IVF that is a complex procedure and required the NHS funding criteria - genetic haplotyping
what is done if there is not mutation present?
panel, exomes and genomes
what is the process of PGD?
combine eggs and sperm to make embryos and then do embryo biopsy and genetic testing (PGD). Then chose the embryos and do embryo transfer
in ethics, what is deontology?
it focuses on the rights and duties - example is Kant who states that every person must be treated as an end in himself rather than a means to an end
what is utilitarianism?
it is the greatest happiness for the greatest number - Bentham
what are the four principles promoted by Beauchamp and Childress and in UK by Raanan Gillon ?
it is respect for individual autonomy, beneficence, increased knowledge (treatment and risk) and non maleficence - the physicians must ensure these and fulfil this duty to promote and safeguard
what does justice mean?
all people to be treated fairly and with equal weight
what are the criteria for valid consent?
competent person, informed and voluntary
what type of genetic changes can be identified?
mutations in genes that have a high risk of disease, variant which may increase the risk. mutations which may be of relevance to subsequent generations and unknown variants
whose duty is it to information family members of risk?
disclosure within families is difficult - only 58% would be willing to tell about breast and ovarian. Therefore there may be disclosure without consent particularly in consanguineous families
what is the issue with telling people?
there is a right to know and not to know - how can you broach subject but still ensure right, is there a duty to not tell and how can people decide if they want to know or not
what are other issues around knowing test results?
stigma and social issues - insurance issues, employment, genetic privacy, police and identity
what are the laws around pregnancy?
it can be terminated up until 24 weeks, after 24 weeks there must be a serious risk to mother and child and child must have serious risk of being born handicapped such that it would affect QoL
