Genetic Disorders and Ethics Quiz
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Questions and Answers

What is the condition associated with trisomy 21 due to non-disjunction?

  • Down syndrome (correct)
  • Klinefelter syndrome
  • Turner syndrome
  • Fragile X syndrome

Termination of pregnancy on medical grounds is a widely discussed ethical topic.

True (A)

What is the price of the gene therapy Hemgenix recommended by NICE?

$3.3M

In families with a history of __________, the genetics and ethical considerations may be significant.

<p>hemophilia</p> Signup and view all the answers

Match the following conditions with their associated genes:

<p>Down syndrome = Trisomy 21 Hemophilia B = Factor IX Prothrombin = Factor II Factor VIII = Hemostasis</p> Signup and view all the answers

What was the primary aim of the Global Variome Project?

<p>To collect and curate human variation (A)</p> Signup and view all the answers

The Global Variome Project was founded in 2015.

<p>False (B)</p> Signup and view all the answers

Who co-chairs the Global Variome Project?

<p>Sir John Burn, Garry Cutting, and Ingrid Winship</p> Signup and view all the answers

In the case of beta thalassaemia, gene therapy is estimated to cost $______ million per patient.

<p>2.8</p> Signup and view all the answers

Match the following organizations or terms with their descriptions:

<p>UNESCO NGO = Renewed in 2023 Global Globin Network = Catalog beta globin gene variations Human Variome Project (HVP) = Merged with HUGO in 2020 Thalassaemia = 300 million carriers globally</p> Signup and view all the answers

What is the primary inheritance pattern of mitochondrial DNA?

<p>Maternally inherited (A)</p> Signup and view all the answers

Paternal mitochondria are preserved after fertilization.

<p>False (B)</p> Signup and view all the answers

What percentage of mitochondrial DNA does the son carry that contains the deletion?

<p>78%</p> Signup and view all the answers

The female pronucleus and male pronucleus combine during __________.

<p>fertilization</p> Signup and view all the answers

Match the following conditions with their corresponding symptoms:

<p>Short stature = Diabetes Adrenal failure = Myopathy Ptosis = Cardiac conduction defect Deafness = No clinical symptoms</p> Signup and view all the answers

What potential ethical issue arises when considering the introduction of new mitochondria into an embryo?

<p>Genetic modification concerns (B)</p> Signup and view all the answers

HFEA research licenses allow for alterations in the genetic structure of embryos.

<p>False (B)</p> Signup and view all the answers

What does HFEA stand for?

<p>Human Fertilisation and Embryology Authority</p> Signup and view all the answers

What is the genetic cause of Huntington's disease?

<p>Repeat expansion of the Huntingtin gene (D)</p> Signup and view all the answers

The prevalence of Huntington's disease is 1 in 100,000 affected individuals.

<p>False (B)</p> Signup and view all the answers

What does VUS stand for in the context of genetic variants?

<p>Variant of Uncertain Significance</p> Signup and view all the answers

The zygote stage characterized by mitochondria from both parents is known as the ______.

<p>pronucleate stage</p> Signup and view all the answers

Match the following genetic conditions with their characteristics:

<p>Huntington's disease = Caused by repeat expansion BRCA1 mutation = Associated with breast cancer risk Alzheimer's disease = Risk can be indicated by APOE genotype Cystic fibrosis = Caused by CFTR gene mutation</p> Signup and view all the answers

What ethical topic involves the decision to terminate a pregnancy based on genetic findings?

<p>Termination of pregnancy on medical grounds (A)</p> Signup and view all the answers

The BRCA1 Val1736Ala variant is conserved across different species.

<p>True (A)</p> Signup and view all the answers

What potential benefit comes from whole genome sequencing in newborns?

<p>Mapping genetic code</p> Signup and view all the answers

The ______ stage marks the early development of the zygote involving the release of pronuclei.

<p>Metaphase II</p> Signup and view all the answers

Which technique involves analyzing an individual's entire genetic makeup?

<p>Whole Genome Sequencing (C)</p> Signup and view all the answers

What is the concern regarding the genetic variants mentioned in the quotes?

<p>They may be pathogenic. (B)</p> Signup and view all the answers

The BRCA Exchange app is focused on providing information about deduplicated variants in BRCA1 and BRCA2.

<p>True (A)</p> Signup and view all the answers

What ethical considerations are mentioned regarding genetic variants with high predictive value?

<p>Termination of pregnancy on medical grounds, pre implantation genetics, sex selection.</p> Signup and view all the answers

One risk associated with genetic testing is __________ problems getting insurance.

<p>insurance</p> Signup and view all the answers

What is a possible outcome of discovering significant genetic variants?

<p>Notification of treatable disorders. (C)</p> Signup and view all the answers

Match the ethical topics with relevant concerns:

<p>Termination of pregnancy = Reproductive choices Predictive Testing in Young People = Future health risks DNA theft = Privacy violation Insurance = Premium costs</p> Signup and view all the answers

Insurance companies should definitely be allowed to use genetic information in their decisions.

<p>False (B)</p> Signup and view all the answers

What is one of the programs mentioned that assesses genetic pathogenicity?

<p>Mutation Taster</p> Signup and view all the answers

Which act requires all sites holding tissues and organs to obtain a licence?

<p>Human Tissue Act 2006 (A)</p> Signup and view all the answers

It is permissible to hold tissue samples with the intent to extract DNA under the Human Tissue Act 2006.

<p>False (B)</p> Signup and view all the answers

What percentage of MSH2 carriers will get cancer by age 75?

<p>80%</p> Signup and view all the answers

In 2019, __ people in England were diagnosed with colorectal cancer.

<p>37,092</p> Signup and view all the answers

Match the following acts to their purposes:

<p>Human Tissue Act 2006 = Regulation of tissue and organ handling Data Protection Act 1998 = Protection of personal data NHS Act 2006 = Confidentiality in medical data use Euro Convention on Human Rights = Rights to privacy and personal freedoms</p> Signup and view all the answers

Which statement is correct regarding the research without consent under the Data Protection Act 1998?

<p>Research without consent is permissible under certain conditions. (C)</p> Signup and view all the answers

Anonymised data use is regulated under the Human Tissue Act.

<p>False (B)</p> Signup and view all the answers

What is a classic symptom ignored in Stephen Sutton's case?

<p>Lynch syndrome</p> Signup and view all the answers

By age 75, 80% of MSH2 carriers will get __.

<p>cancer</p> Signup and view all the answers

How many people were referred for germline testing in 2019?

<p>210 (B)</p> Signup and view all the answers

Flashcards

Down Syndrome

A genetic condition resulting from an extra copy of chromosome 21, leading to distinct physical characteristics and developmental challenges.

Termination of Pregnancy on Medical Grounds

A situation where a woman has the option to end a pregnancy based on medical reasons related to the fetus.

Pre-implantation Genetics

Genetic testing conducted on embryos before implantation to identify potential genetic conditions or abnormalities.

Haemophilia

A condition caused by a genetic defect that prevents proper blood clotting, leading to excessive bleeding.

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Genethics

The ethical debate surrounding the limits of genetic screening and the potential implications for individual choices, healthcare resources, and societal values.

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Human Variome Project

A project aimed at collecting and curating all human genetic variation.

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LOVD (Leiden Open Variation Database)

A database for genetic variations associated with specific diseases, used by the Human Variome Project.

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Global Globin Network

A network focused on cataloging variations in the beta globin gene, a key gene involved in red blood cell production.

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Beta Thalassaemia

A genetic disorder where the production of beta globin is reduced or absent, leading to severe anemia.

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Moral Implications of PGD

The ethical dilemma surrounding preimplantation genetic diagnosis (PGD) in relation to the potential destruction of unused embryos.

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Risk of problems getting insurance after genetic testing

The potential risks or difficulties in obtaining insurance coverage following genetic testing.

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Maternal Inheritance of Mitochondria

Mitochondria are tiny energy factories within cells. They are responsible for producing ATP, the energy currency of our bodies. The mitochondria in our cells are inherited solely from our mothers, meaning they are passed down through the maternal line.

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Paternal Mitochondrial Destruction

During fertilization, the sperm's mitochondria are targeted for destruction by the developing embryo. This ensures that the offspring inherits only its mother's mitochondrial DNA.

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Mitochondrial DNA (mtDNA)

Mitochondrial DNA (mtDNA) is a circular molecule found inside mitochondria. It carries genetic information that affects mitochondrial function. Mutations in mtDNA can lead to a variety of diseases.

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Mitochondrial Disease

A serious mitochondrial disease that can result in various symptoms, including short stature, diabetes, adrenal failure, muscular weakness, drooping eyelids, heart conduction problems, deafness, and premature death.

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Metaphase II Egg

A stage in oocyte development where chromosomes align in the middle of the cell, ready for division. This is the stage where the oocyte is typically harvested for assisted reproductive technologies like IVF.

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Pronucleate Stage

A stage in the early embryo development where the parental chromosomes are about to meet at the center of the cell, initiating the process of cell division and embryonic growth.

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Chromosomal Transfer Between Oocytes

The transfer of parental chromosomes between oocytes. This could potentially be used to prevent the transmission of mitochondrial diseases to offspring.

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Genetic Modification and Embryos

The ethical and legal debate surrounding the use of genetic modification technology in embryos. The potential benefits of preventing inherited diseases must be weighed against the ethical implications of altering human germline.

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Germinal Vesicle (GV) Stage

The stage of development in a fertilized egg (zygote) where the maternal and paternal genetic material (pronuclei) are separate within the egg cell, but before they fuse together to form a single nucleus.

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Pronuclei Removal

The process of removing one of the pronuclei (containing genetic material) from a fertilized egg (zygote), often used in research or to create embryos with specific genetic characteristics.

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Huntington's Disease

A genetic disorder caused by an expansion of a repeated sequence within the Huntingtin gene. This leads to a buildup of a toxic protein and progressive neurological decline.

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Recurrence

The likelihood of a child inheriting a specific genetic condition from their parents.

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Prevalence

The number of individuals in a population who are affected by a specific condition. Usually expressed as a percentage or fraction.

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Variant of Uncertain Significance (VUS)

A genetic variant with an unclear association to a specific condition or disease. It's often difficult to predict whether this variation will have any effect on a person's health.

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Whole Genome Sequencing

The process of analyzing an individual's entire genetic makeup, including all their genes.

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Genetics Ethics

The ethical and social implications of using genetic information, particularly the potential impact on individual choices, healthcare access, and society as a whole.

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Human Tissue Act 2006

The legal framework in the UK that governs the use and storage of human tissue, including DNA. It requires a license for holding tissue samples and prohibits extracting DNA for commercial purposes.

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Lynch Syndrome

A genetic condition characterized by an increased risk of developing certain cancers, particularly colorectal cancer. It is caused by mutations in DNA mismatch repair (MMR) genes.

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Colorectal Cancer (Bowel Cancer)

A type of cancer affecting the large intestine or rectum. It is one of the most common cancers worldwide. Patients with Lynch Syndrome have a higher risk of developing this cancer.

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Germline Testing

The process of sequencing an individual's DNA to identify mutations in genes that can increase the risk of certain diseases, including Lynch Syndrome.

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Immunohistochemistry (IHC)

A technique that analyzes the expression of certain proteins in cells. It can be used to detect the presence of Lynch Syndrome, where there is a deficiency in DNA mismatch repair proteins.

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Microsatellite Instability (MSI) Testing

A method for identifying genetic variations associated with Lynch Syndrome. It analyzes the microsatellite instability (MSI) in a patient's DNA.

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DNA Mismatch Repair (MMR) Genes

A group of genes involved in DNA repair. Mutations in these genes can lead to an increased risk of developing Lynch Syndrome.

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Lifetime Risk

A statistical measure of the proportion of people in a population who will develop a specific disease over their lifetime.

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Data Access

A situation where a person has access to their own medical records, including their genetic information.

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Research Ethics

The ethical principle of minimizing harm and maximizing benefit in research. It involves balancing the potential risks and benefits of research participation.

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Study Notes

Genetics and Ethics

  • Course code: BGM1004-26 2024
  • Lecturer: Sir John Burn MD FRCP FMedSci
  • Role: Professor of Clinical Genetics, Newcastle University; Clinical Geneticist, Newcastle Hospitals

Genethics

  • 100,000 babies to have genetic code mapped - BBC News
  • Images of protests regarding abortion rights

Ethics Topics

  • Termination of pregnancy on medical grounds
  • Pre-implantation Genetics
  • Sex selection

Case Study: Samantha

  • 1 in 700 babies
  • 1 in 100 if mother is 40+
  • Genetic abnormality: 47,XY,+21

Case Study: Fetus Abnormality

  • Question: Should a woman be allowed to terminate any pregnancy where there is an abnormality in the fetus?
  • Options: Yes, No, Abstain

Gestational Limit

  • Question: Should there be any gestational limit?

Queen Victoria and Haemophilia

  • Family tree illustrating haemophilia inheritance

Haemophilia Mechanism

  • Diagram illustrating the clotting cascade, highlighting the role of Factors VIII and IX.
  • Prothrombin → Thrombin → Fibrinogen → Fibrin → Blot clot

Gene Therapy

  • Hemophilia gene therapy (Hemgenix) approved for marketing
  • UK National Institute for Health and Care Excellence (NICE) guidance against NHS coverage for adults with hemophilia B.
  • Cost: $3.3M per patient

Human Variome Project

  • Founded in 2006 by Richard Cotton
  • Co-chaired by Sir John Burn, Garry Cutting, and Ingrid Winship
  • Aims to collect and curate all human variation
  • Uses Gene-Disease Specific Databases in LOVD
  • Includes a Global Globin Network for cataloging beta globin gene and modifier variations.
  • Led by Raj Ramesar and Zilfalil Bin Alwi
  • Working on Thalassaemia (300 million carriers, 1M affected), $2.8M per patient gene therapy project

Fertilization and Early Development

  • Images of sperm, egg, and 2-day-post-fertilization zygote
  • Question: How many souls?

Preimplantation Diagnosis

  • Question: If we perform preimplantation diagnosis, are we causing the death of an individual if we leave unused zygotes to die in the Petri dish?

Blastomere Removal

  • Question: Does the removal of a blastomere constitute the loss of a soul?

Mitochondrial DNA

  • Mitochondrial DNA is maternally inherited
  • Each human ovum contains about 500,000 mitochondria
  • Paternal mitochondria targeted for destruction after fertilization

Mitochondrial Disease Case

  • Mother: 38% mtDNA carries a deletion; No clinical symptoms
  • Son: 78% mtDNA carried the deletion; Short stature, Diabetes, Adrenal failure, Myopathy, Ptosis, Cardiac conduction defect with pacemaker, Deafness, Died aged 7

Genetic Disorder Family Tree

  • Pedigree showing inheritance of a genetic condition

Moving Parental Chromosomes

  • Question: Could we move the parental chromosomes to another oocyte?

Genetic Modification of Embryo

  • Question: If we gave an embryo new mitochondria, would it be "genetically modified"?
  • HFEA research license restrictions on altering genetic structure of cells while forming part of an embryo.
  • Discussion of "genetic structure"

Embryo Development Stages

  • Diagram of embryo development stages (Germinal Vesicle, Metaphase II egg, Pronucleate stage)
  • Diagram illustrating the removal of pronuclei and the transfer of mitochondria.

BRCA1 Variant

  • Newcastle family: BRCA1 Val1736Ala
  • BRCA1: Valine is conserved at equivalent position 1736 in all 18 species examined

Variant of Uncertain Significance (VUS)

  • Lab classification of VUS in October 2014 (Variant of Uncertain Significance)
  • Inconsistent reports about VUS (Variant of Uncertain Significance), lacking a consistent mechanism.

BRCA Databases

  • 72,000 deduplicated variants in BRCA1&2

  • BRCA Exchange website

Untreatable Genetic Disorder and Disclosure

  • Question: If we discover genetic variants which have a high predictive value for an untreatable disorder, should we tell people?

Insurance and Genetic Testing

  • Question: Should insurance companies be allowed to use genetic information in their decisions on premiums and whether to offer cover?

DNA Theft

  • Case study: the threat of DNA theft in 2002 involving St James Palace and Harry's hair

Human Tissue Act 2006

  • All sites holding tissues and organs require a license and are subject to external regulation.
  • Illegal to hold samples with the view to extracting DNA.
  • Once extracted, DNA is exempt from regulation.
  • Data Protection Act 1998 (research permissible under certain conditions)
  • Section 251 NHS Act 2006 (usual confidentiality may be set aside if consent is not practicable)
  • Article 8 Euro. Convention on Human Rights

Research Access to NHS Records

  • Question: Should researchers be allowed access to your medical records in the NHS to perform anonymized research?

Colorectal Cancer Cases in England

  • 37,092 people in England with colorectal cancer in 2019
  • Thousands had Lynch syndrome

Lynch Syndrome Genetic Testing

  • 210 people referred for germline testing for Lynch Syndrome MMR genes.
  • 90% of people with LS had not been tested.

Eugenics

  • The concept of eugenics as introduced by Francis Galton.
  • Early 20th-century eugenics clinic—Ellis Island, New York.

Summary

  • UK no longer assumes a Judeo-Christian moral model.
  • New technologies necessitate positions where individual choice is compared to ethical choices of others.
  • Awareness of unforeseen consequences is crucial.
  • Put the individual at the centre of consideration.

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Related Documents

Genetics and ethics Past Paper PDF 2024

Description

Test your knowledge on genetic disorders, gene therapy, and their ethical implications. This quiz covers various conditions like trisomy 21 and beta thalassaemia, as well as projects such as the Global Variome Project. Explore the genetics, inheritance patterns, and contemporary ethical discussions surrounding these topics.

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