18.04.06 Population screening: guidelines and ethics Flashcards
What are the WHO criteria for a genetic screening programme?
a) there is an important public health burden in the target population (no. of people affected or severity of problem).
b) the natural history of the disease should be well understood.
c) there is general agreement on the benefits expected from the programme, from the point of view of the professionals, patients and community.
d) a suitable test exists with known predictive value (i.e. risk of disease due to mutations in the screened genes is known).
e) effective interventions exist to reduce morbidity and mortality among susceptible individuals.
f) should be cost effective.
What are the potential benefits of introducing a genetic screening programme?
Improved prognosis
Less radical treatment
Resource saving
Reassurance for those with negative result
What are the potential disadvantages of introducing a genetic screening programme?
Longer morbidity where prognosis is unaltered
Overtreatment of questionable abnormality
Resource costly
False assurance for those with negative result
Anxiety and morbidity for false positive result
Which agency is responsible for the screening procedures and policies in the UK?
UK National Screening Committee
When do bloodspots get taken from newborn babies participating the newborn screening programme?
5 days old
What conditions are included in the UK newborn blood spot screening programme?
Nine genetic conditions:
1) Sickle cell disease
2) cystic FIBROSIS
3) Congenital hypothyroidism
(6x inherited metabolic diseases)
4) PKU (phenylketonuria)
5) MCADD (medium-chain acyl-CoA dehydrogenase deficiency
6) Maple syrup urine disease (MSUD)
7) Isovaleric acidaemia (IVA)
8) Glutaric aciduria type 1 (GA1)
9) Homocystinuria (HCU)
What is preconception testing?
Programme offered to couples with a high risk of being a carrier of a genetic disease. In some countries there are highly organised programmes and, in some cases, prohibitions on marriage between carriers of certain conditions, or requirements for couples to show that they have undergone carrier testing before marriage ceremonies can take place.
Examples -B-thalassaemia in Cyprus
> 30 condition in ASJ
What ethical issues are associated with population screening programmes?
Relevant ethical principles in medicine:
1) Respect autonomy of patient.
2) Beneficence - giving highest priority to the welfare of persons and maximising benefits to their health.
3) Non-maleficence - avoiding and preventing harm to persons or at least minimising harm.
4) Justice - treat persons with fairness and equity and distributing benefits and burdens of health care as fairly as possible in society.
Medical genetics has a tradition of non-directiveness in counselling because:
1) Genetic information may affect the entire family.
2) Genetic discoveries may be predictors of future adverse effects on an individual/family.
3) Genetic information and choices made may affect future generations.
