Genetic Testing Flashcards

(12 cards)

1
Q

What is PGT/PGD?

A

Pre- implantation genetic testing/ Preimplantation genetic diagnosis

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2
Q

How does PGT work?

A
  1. Ovulation induction: Woman’s ovaries are stimulated to produce multiple eggs, done with fertility medications
  2. Egg retrieval: 10-15 oocytes removed from woman’s ovaries
  3. Fertilisation
  4. Biopsy: A few cells are removed from each embryo of the ‘to be placenta’
  5. Genetic testing: screened for abnormalities
  6. Embryo transfer: one or more embryos free from abnormalities are implanted into woman’s uterus
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3
Q

Who decided what genes to test for and what are the criteria?

A

The HFEA

  • On NHS for couples with high risk of genetic disorder offspring
  • Local authorities choose if they support treatment or not
  • Eligibility is based on BMI, age, fertility history etc.

Only available for monogenic disorders

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4
Q

What are some genes that are screened?

A
  • CF
  • Huntington’s disease (HTT gene)
  • Muscular dystrophy (DMD)
  • Sickle cell anaemia (HBB gene)
  • Prader-willi syndrome
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5
Q

How can unlimited amount of eggs increase scientific possibility?

A
  • Unlimited amount of embryos means you can test for very rare genetic disorders
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6
Q

What is favourable trait testing?

A
  • Certain genes for physical fitness (muscle endurance, lung capacity, asthma)
  • Idea that prospective parents can increase their chances of child having ‘good’ traits
  • Even gender!!! in mexico, cyprus and thailand
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7
Q

What are some ethical concerns with genetic testing?

A
  • Artifical gametes/ Embryo creation, manipulation and destruction
  • AGs could enable hertiable genetic modifications raising ‘designer baby’ concerns
  • Psychological impact on offspring
  • Ability to create gametes from any cell source (e.g. celeb cells, deceased) complicates regulations (gamete theft)
  • Commodification of reproductive materials
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8
Q

How is reproductive inequality present within PGT?

A

where only the wealthy can afford AG-based fertility treatments, deepening existing disparities.
- not covered by NHS

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9
Q

How is gender selection a problem?

A
  • Inherently sexist, cases with IVF in India and China always favouring men is a huge issue
  • Preconception has been deemed acceptable if the family already has one child and wants gender ‘variety’ but is problematic for the first child selection
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9
Q

What are some treatments included in clinical commissioning policies?

A

Breast reduction
Removal of benign skin lesions
Haemorrhoid surgery
Trigger finger release
Varicose vein interventions
Hysterectomy for heavy menstrual bleeding
IVF!

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9
Q

What are clinical commissioning policies?

A
  • A document that defines access to a service to a particular group of patients
  • Contain information about treatments and who can have those treatments paid for by the NHS
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10
Q

What are the clinical commissioning policies for IVF?

A
  • Eligibility Criteria: NHS-funded IVF follows NICE guidelines, offering up to three cycles for women under 40 and one cycle for women aged 40–42
  • Have to meet conditions like infertility duration (2+ years), ovarian reserve, and no prior IVF cycles (for 40–42 age group).
  • Fewer cycles offered/ stricter rules on factors like BMI, smoking status, existing children, and relationship status.
  • If NHS criteria aren’t met, patients must pay for private IVF, costing £3,000–£5,000 per cycle
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