SOCIAL IMPLICATIONS OF GENETIC PRENATAL SCREENING IN PREGNANCY

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SOCIAL IMPLICATIONS OF GENETIC PRENATAL SCREENING
IN PREGNANCY
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Innovative Health Technologies ProgrammeProjects
funded in the area of genetics

• Pregnancy Childbirth
• Definitions of Genetic Knowledge and
  Pre-Implantation Genetic Diagnosis
• Social Ethnic Differences in attitudes
  consent to prenatal testing
• The Technological Management of Childbirth -
  risk, empowerment professional accountability
• Social Implications of One Stop First Trimester
  Prenatal Screening

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Innovative Health Technologies ProgrammeProjects
funded in the area of genetics

• Other types of genetic screening
• The construction of risk estimates in a cancer
  genetics clinic
• Genetic screening for Susceptibility to Disease
  The Case of Haemochromatosis

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Projects On The Social Implications Of Genetics
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Projects On The Social Implications Of Genetics
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Projects On The Social Implications Of Genetics
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Projects On The Social Implications Of Genetics

• SETTINGS
• Clinics
• Hospitals
• Homes

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ISSUES COMMON TO MOST OF THE PROJECTS IN GENETICS

• The management and meaning of risk
• The impact of technologies in the workplace
• The impact of technologies on women, patients and
  their families
• The process of explanation and decision making

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Researching Innovative Technologies is involving

• Development of innovative social science methods
• Crossing disciplinary and professional domains
• Dialogue on the social negotiation of genetic
  information and choice

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Social Implications of One Stop First Trimester
Prenatal Screening

• Professor GA Lewando-Hundt
• Professor Jane Sandall
• Professor Bob Heyman
• Dr Kevin Spencer
• Dr Clare Williams
• Rachel Grellier

• Warwick University
• Kings College, London
• City University, London
• Barking, Havering Redbridge NHS Trust
• Kings College, London
• Warwick University

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Prenatal Screening for Trisomy 21Conventional
Second Trimester (15-18 weeks) Approach

• Maternal blood test to measure a combination of 2
  to 4 biochemical markers in a batched process in
  a centralised lab.
• Patient specific risk reported to ANC 2 to 4 days
  later. 5-6 of women identified At Risk
• At Risk women brought back for counselling re.
  Invasive Diagnostic Test

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Prenatal Screening for Trisomy 21Conventional
Second Trimester (15-18 weeks) Approach

• Amniocentesis performed - fluid sent away to
  Regional Reference Lab.
• 2 to 3 weeks later diagnosis reported to ANC
• Patient returns for further counselling.
• TOP if considered appropriate around 21 weeks
  -some 32 days after initial screen.
• DR 70 FPR 5 No of invasive procedures per case
  detected is 55

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OSCAR - A One Stop Clinic for Assessment of Risk
for fetal anomalies.
Kevin Spencer Endocrine Unit,Clinical
Biochemistry Dept., Harold Wood Hospital,
Romford, U.K.
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Developments Innovations Leading to OSCAR

• Ultrasound markers of chromosomal anomalies -
  fetal nuchal translucency thickness at 10-13
  weeks.

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Increased fetal nuchal translucency thickness in
a case of T21
Upper limbs
Head
Lower limbs
NT
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Developments Innovations Leading to OSCAR

• Ultrasound markers of chromosomal anomalies -
  fetal nuchal translucency thickness at 10-13
  weeks.
• Biochemical markers of chromosomal anomalies -
  free ??hCG PAPP-A at 10-13 weeks.

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Developments Innovations Leading to OSCAR

• Ultrasound markers of chromosomal anomalies -
  fetal nuchal translucency thickness at 10-13
  weeks.
• Biochemical markers of chromosomal anomalies -
  free ??hCG PAPP-A at 10-13 weeks.
• Development of new rapid assay technology for
  biochemical marker measurement.

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Kryptor AnalyserNobel Prize winning chemistry

• Small bench top analyser - clinic based
• Rapid assay times (19 mins)
• Kinetic reading - leading to automatic rediluting
  of high samples within 4 minutes
• Precise - cv less than 3 between day
• Continuous sample access - stat capability
• Small sample (lt50ul) and reagent (lt150ul)
  volumes.
• User friendly

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Developments Innovations Leading to OSCAR

• Ultrasound markers of chromosomal anomalies -
  fetal nuchal translucency thickness at 10-13
  weeks.
• Biochemical markers of chromosomal anomalies -
  free ??hCG PAPP-A at 10-13 weeks.
• Development of new rapid assay technology for
  biochemical marker measurement.
• Predicted DR 90 for 5 FPR. No of invasive
  procedures per case detected is 30

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OSCAR clinic flowPatient booked for a 1300
appointment (15 minute intervals)
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Professional Interactions
Midwives
Support Workers
OSCAR
Ultrasonographers
Obstetricians
Technologists
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Prospective First Trimester ScreeningJune 98 -
May 99

• Total births 4397
• Women offered screening 4190 (95.3)
• Women accepting 4088 (97.6)
• 88 of T21 cases detected 95 of all
  Chromosomal anomalies over past 2 years

Spencer et al (2000) BJOG 1071271
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Screening options - time scales

• 2nd trimester biochemistry - results usually
  within 3 days, amniocentesis within 3 days,
  diagnostic test results 3-4 weeks after
  screening.
• 1st trimester NTBiochem - results within 1 hour,
  CVS within 2 days, diagnostic test results 7-10
  days after screening.

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Aim of study

• To explore and compare the risks and benefits of
  innovative and established models of genetic
  prenatal screening as defined, perceived and
  communicated by health professionals and pregnant
  women.

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Research questions

• Do innovative prenatal screening methods for
  foetal anomalies impact differently on the social
  management of screening and testing ?
• What are the experiences of women of innovative
  and established genetic prenatal screening
  systems ?
• Do inter-professional roles, and relationships
  between professionals and clients, change ?

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Research questions

• How do innovative and established prenatal
  screening systems affect womens conceptions of
  self, and of the foetus ?
• How do they impact on the management of
  reproductive risk in the clinic and the home ?

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Theoretical background

• Social context of reproduction and reproductive
  technologies
• Contrasting understandings of risk
• Sociology of the professional and expert groups

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Methods

• Research will take place at two sites one
  offering the innovative one stop approach, the
  other offers conventional second trimester
  prenatal screening.
• Multi-method approach
• Perspectives on clinic consultations at critical
  screening junctures with a sub-sample from health
  professionals and women.

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Methods

• Focus groups with health professionals
• Survey of representative sample of women
  examining expectations about, and reflections on
  different screening processes.

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Contribution to the IHT programme

• The study will offer insights into-
• Participants broader response to the new
  emerging technology of prenatal screening their
  views about its routinisation and notions of
  genetic responsibility.
• The impact of new screening technologies on, and
  the social management of pregnancy and
  interprofessional relationships, between
  obstetrics, midwifery and biomedicine.

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Contribution to the IHT programme

• The study will offer insights into-
• The social context of pregnancy, and perspectives
  on identity and the body.
• Understanding of complex probabilistic
  information and of risk.