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Lec 13 (medical genetics) Flashcards

1
Q

Social, ethical and policy challenges involved with genetic testing

A

HART Act 2004

human assisted reproductive act

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2
Q

types of genetic tests available

A

preimplantation genetic diagnosis

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3
Q

Define medical genetics

A

The specialty of medicine that involves the diagnosis and management, and counselling of genetic disorder

They are the molecular changes that occur during the development of genetic disease

Life-threatening or provide a lot of pain)

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4
Q

Give examples of conditions in medical genetics

A
  1. birth defects
  2. metabolic disorders
  3. mitochondrial disorders
  4. cancer

Life-threatening or provide a lot of pain)

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5
Q

What types of genetic tests are used and why?

A
  1. carrier screening e.g a carrier for a cystic fibrosis
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6
Q

What types of genetic tests are used and why?

A
  1. carrier screening e.g a carrier for a cystic fibrosis
    - then PGD can be used
  2. Prenatal diagnostic testing e.g Down Syndrome
  3. Newborn screening
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7
Q

what is the genotype of cystic fibrosis

A

homozygous recessive

25% of offspring having cystic fib if parents are carriers (hetero)

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8
Q

What occurs if a couple have been screened for cystic fibrosis and 1 or both of them are carriers of the gene? What mechanisms can be used to ensure their offspring will have a reduced chance of getting cyst fib?

A

Carry out a preimplantation genetic diagnosis (PGD)

this method tests an embryo before implantation in the uterus for single-gene (mendelian) disorders

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9
Q

What occurs if a couple have been screened for cystic fibrosis and 1 or both of them are carriers of the gene? What mechanisms can be used to ensure their offspring will have a reduced chance of getting cyst fib?

A

Carry out a preimplantation genetic diagnosis (PGD)

this method tests an embryo before implantation in the uterus for single-gene (mendelian) disorders

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10
Q

describe the method of PGD

A

PGD = preimplantation genetic diagnosis

take the sperm and oocyte and fertilise it in vitro (in a petri dish). And then test the embryo for cystic fib.

If the embryo comes back as cystic fib. then the embryo is not used.

But if it comes as negative, then the embryo can be used and implanted into the female.

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11
Q

Describe Newborn screening

A

Once the baby is born, within 48 hours

the parent can give informed consent of the baby’s heal to be pricked- therefore, a bloodsample is collected on to a card called a Guthrie card.

DNA/protein can be extracted from the card. usually protein is extracted to perform mass spec to determine the absence of a specific protein.

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12
Q

64,000 babies born a year, how many of them are screened through the newborn screening test and are with a genetic disease?

A

45 are born with a genetic disease

Treatment can then be given to reduce the symptoms

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13
Q

How many babies have cystic fib in a year in NZ?

A

8 cystic fibrosis babies a year

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14
Q

describe predictive genetic testing

A

predicting adult-onset disorders the healthy (presymptomatic) adults

  • estimating the risk of developing adult-onset disease
    e. g Huntington’s Disease

no. of CA repeats on chromosome 4

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15
Q

Describe diagnostic genetic testing

A
  • most common in NZ rn in terms of covid 19
  • yes/no covid 19

conformational diagnosis of asymptomatic individual

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16
Q

What are the main types of genetic tests used

A

5

1) predictive genetic testing
2) diagnostic genetic testing
3) pharmacogenetic testing
4) research genetic testing
5) forensic/identity testing

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17
Q

Describe pharmacogenetic testing

A
  • now available to guide treatments for certain cancers

- drug may work better depending on the mutation status

18
Q

Describe research genetic testing

A

helps scientists learn more about gene function and develop gene-based treatments

  • find mutations
  • find the gene function to explain the cause of the particular symptoms

-results don’t directly help the participant, but may benefit their offspring

19
Q

Describe forensic/identity testing

A

after death

genetic markers are used

20
Q

ART stands for __

A

Assisted reproductive technologies

21
Q

what is ART

A

methods that replace the source of a male or female gamete, aid fertilisation or provide a uterus

In the US, around 1% of the 4 million births each year are from ARTs

In aus, NZ >70kART cycles are undertaken each year, resulting in the birth of 1 in 25 children

rising to 1 in 12 women aged >35yr

22
Q

ART was developed to treat

A

infertility but are becoming part of genetic screening

because worldwide, there is an increase in the level of infertility

23
Q

How many individuals experience infertility in

A

up to 20% pf australian and NZ couples will experience infertility and undergo ART

government-funded ART treatment is available in NZ only for those who meet strict eligibility criteria

24
Q

Give examples of ART

A
  • replacing with a a gamete (sperm or egg)
    1) intrauterine insemination IUI (5-15% success)
    2) surrogate motherhood
    3) In vitro fertilization (IVF)
    4) gamete intrafallopian transfer (GIFT) (22%)
    5) oocyte banking and donation (3%)
    6) preimplantation diagnosis PGD (29%)
    7) sequential polar body analysis
25
Q

Briefly describe

intrauterine insemination

A

clean sperm and insert it into uterus

26
Q

Briefly describe

surrogate motherhood

A

an individual carries the egg on behalf of a couple

NZ laws are v restrictive

27
Q

Briefly describe IVF

A

biggest in NZ

take egg and sperm and fertilise in a petri dish

28
Q

Briefly describe GIFT

A

take sperm and transfer it into fallopian tube

29
Q

Briefly describe ZIFT

A

IVF embryo taken and inserted into the female

30
Q

What is the main form of ART

A

PGD

preimplantation genetic diagnosis

31
Q

____ is a further refinement of using PGD

A

sequential polar body analysis

32
Q

ART was demonstrated in nonhumans in __. what was the first animal

A

1782
IUI

dogs

33
Q

Main aspect for humans in terms of ART was reported in __

A

1953

34
Q

the first IVF baby was born in __

A

1978 in UK

Louise Job Brown

35
Q

first NZ IVF baby

A

1983

36
Q

first PGD in __. and was used to ___

A

1989

select females who couldn’t inherit the X-linked conditions from mothers

37
Q

Why was the first PGD controversial in NZ

A

because you’re working with an embryo outside of the human body

NZ had a heavy consultation period - formed a law HART 2004 act

38
Q

PGD was used in __ in NZ

A

the early 2000s

39
Q

What is PGD

A

preimplantation genetic diagnosis

  • a technique for detecting genetic and chromosomal abnormalities prior to implantation
  • 1 cell/blastomere of an 8-celled embryo can be removed for testing. The remaining cells will complete normal dev
  • accuracy in detecting a mutation/abnormal chromosome = 97%
  • errors happen when a somatic mutation affects the sampled blastomere and not the rest of the embryo
40
Q

When was the first child born following PGD to screen for cystic fibrosis allele present in their family

A

1992

show that the embryo does not have the cystic fibrosis mutation

. (12 decks)

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