Genetics and Bioethics Flashcards

Flashcards covering prenatal testing, ART, stem cells, gene-environment interaction, DNA-based forensics, precision medicine, gene therapy, CRISPR, intersex activism, and medicalization.

What is the purpose of prenatal testing?

To identify potential genetic conditions or abnormalities in a developing fetus.

What are some reasons pregnant individuals might choose to pursue prenatal genetic testing?

To gain information about the fetus's health, prepare for potential health challenges, or make decisions about the pregnancy.

What are some reasons pregnant individuals might choose NOT to pursue prenatal genetic testing?

Concerns about the accuracy of tests, the potential for anxiety or stress, or beliefs that all life should be valued regardless of genetic conditions.

What is NIPT?

Non-invasive prenatal testing.

What is a key ethical concern about NIPT?

If it potentially leads to eugenics by selecting against certain genetic traits.

How might feminist ethics view prenatal testing?

By focusing on the concept of informed choice and reproductive autonomy.

Define Assisted Reproductive Technology (ART)

Technology used to achieve pregnancy in people

What is IVF?

In Vitro Fertilization: A complex series of procedures used to help with fertility or prevent genetic problems and assist with the conception of a child.

What is ICSI?

Intracytoplasmic Sperm Injection: A fertilization process in which a single sperm is injected directly into an egg.

What is PGD?

Preimplantation Genetic Diagnosis: Genetic profiling of embryos prior to implantation.

What information can ART data from the CDC provide?

Trends related to uptake, access, and procedural changes related to IVF over time.

What are the capabilities of embryonic stem cells?

Pluripotent - they can differentiate into any cell type in the body.

What are the capabilities of adult stem cells?

Multipotent - they can differentiate into a limited number of cell types.

What are hESCs?

Human embryonic stem cells

What are NT-ESCs?

Nuclear transfer embryonic stem cells

What are iPSCs?

Induced pluripotent stem cells

How does the Dickey-Wicker Amendment impact stem cell research?

It restricts the use of federal funds for the creation of human embryos for research purposes.

Define gene-environment interaction.

How genes and environment influence phenotype. (GxE)

Give an example of a gene-environment interaction.

Drug responsiveness across individuals.

Define epigenetics (Riggs, 1996)

The study of changes in gene expression that occur without alterations in DNA sequence.

How does DNA methylation affect gene expression?

Typically decreases gene expression.

What is STR in DNA fingerprinting?

Short Tandem Repeats: repeating sequences of DNA used for identification.

What is CODIS?

Combined DNA Index System: the FBI’s database of DNA profiles.

What is pharmacogenetics?

The study of how genes affect a person's response to drugs.

What is a companion diagnostic?

A diagnostic test used to determine if a patient is likely to benefit from a specific drug.

What are the goals of gene therapy?

To treat or cure diseases by modifying a person's genes.

What is a viral vector?

A virus used to deliver genetic material into cells.

What is velvet eugenics?

A subtle form of eugenics that is driven by individual consumer choices and preferences, rather than overt policy decisions.

Define medicalization.

The process by which non-medical problems become defined and treated as medical issues.

What are some examples of diseases that gene therapy aims to treat?

Cystic fibrosis, hemophilia, and spinal muscular atrophy.

What are some ethical concerns related to gene therapy?

Informed consent, equitable access, and potential for unintended consequences.

What is CRISPR?

Clustered Regularly Interspaced Short Palindromic Repeats: A gene editing technology.

What are some potential applications of CRISPR?

Correcting genetic mutations, developing new diagnostics, and creating disease models.

What are some ethical considerations related to CRISPR?

Off-target effects, germline editing, and equitable access.

Define direct-to-consumer genetic testing.

Genetic testing that is marketed directly to consumers without the involvement of a healthcare provider.

What are some benefits of direct-to-consumer genetic testing?

Increased accessibility, empowerment, and personalized information.

What are some risks of direct-to-consumer genetic testing

Inaccurate or misleading results, lack of genetic counseling, privacy concerns, and potential for misinterpretation of health information.

Define direct-to-consumer genetic testing (DTC GT).

Genetic testing offered directly to consumers, bypassing traditional healthcare provider involvement. (DTC GT)

What are some benefits of direct-to-consumer genetic testing?

Increased accessibility, empowerment, and personalized information.

What are some risks of direct-to-consumer genetic testing?

Inaccurate or misleading results, lack of genetic counseling, privacy concerns, and potential for misinterpretation of health information.

Define genetic ethics.

The ethical and societal implications of genetic technologies.

Define precision medicine.

The use of genetic information to improve health outcomes.

What is a companion diagnostic?

A diagnostic test used to determine if a patient is likely to benefit from a specific drug.

What is AAV?

Adeno-Associated Virus: A small virus that is not currently known to cause disease and is used as a viral vector for gene therapy.

Describe Jesse Gelsinger’s case – what form of gene therapy (including vector type) did he receive and why, what outcomes were observed, what were some of the ethical failings of the researchers, and how did his case affect the field of gene therapy clinical trials?

Jesse Gelsinger, who had ornithine transcarbamylase deficiency, participated in a gene therapy clinical trial. He received an adenovirus vector to deliver a corrected gene to his liver. Gelsinger experienced a massive immune response, leading to multiple organ failure and death. Ethicalfailings included inadequate informed consent and failure to disclose adverse events. His case led to increased scrutiny and stricter regulations in gene therapy clinical trials.

Compare and contrast in vivo, in situ (a form of in vivo), and ex vivo gene therapy (all forms of somatic cell gene therapy)

In vivo gene therapy involves direct administration of therapeutic genes into a patient's body, typically via vectors, to target affected tissues. In situ gene therapy refers to delivering genes directly into the tissue where they are needed, whereas ex vivo gene therapy involves altering cells outside the body and then transplanting them back into the patient.

Describe the goals of gene therapy and explain how viral vectors can be used to deliver genetic material

Gene therapy aims to treat or prevent diseases by introducing, removing, or altering genetic material within a patient's cells. Viral vectors, such as retroviruses or adenoviruses, can deliver therapeutic genes into targeted cells, allowing for stable expression of the desired genetic material.

Explain why random genome integration (where the exogenous DNA becomes part of the nuclear DNA, at a random spot in the sequence) achieved through gene therapy could be dangerous (e.g., reference the ADA-SCID trials in France)

Random genome integration can be dangerous because the insertion of exogenous DNA at random locations can disrupt essential genes or regulatory elements, potentially leading to carcinogenesis or other adverse effects. In the ADA-SCID trials in France, this kind of integration resulted in leukemia in some patients due to activation of oncogenes.

Describe the basic mechanics of how CRISPR works, referencing guide RNA and the Cas9 enzyme, and describing the kinds of changes that can be made to the genome

CRISPR is a gene-editing technology that uses a guide RNA to direct the Cas9 enzyme to a specific DNA sequence in the genome. Once targeted, Cas9 creates a double-strand break, allowing for gene modifications such as insertions, deletions, or repairs at that precise location.

Compare and contrast somatic and germline gene editing

Somatic gene editing targets non-reproductive cells, affecting only the individual patient and not heritable. In contrast, germline gene editing alters reproductive cells, allowing changes to be passed on to future generations, which raises ethical concerns and potential long-term impacts on the population.

Compare and contrast 2 case studies: somatic gene editing for sickle cell disease & germline gene editing for CCR5. What was done in each case and what were the main questions or concerns raised? How were they similar and different?

In the case of somatic gene editing for sickle cell disease, researchers used CRISPR to modify the patients' hematopoietic stem cells to produce healthy red blood cells. For germline gene editing targeting the CCR5 gene, embryos were edited to confer resistance to HIV. The main concerns for sickle cell gene editing focused on efficacy and safety for individuals, while germline editing raised ethical questions regarding unintended consequences for future generations.

Define assisted reproductive technology (per the CDC) and describe how it is regulated in the United States

Assisted reproductive technology (ART) refers to medical procedures used to address infertility, including in vitro fertilization (IVF) and embryo transfer. In the United States, ART is regulated primarily through professional guidelines, state laws, and federal standards set by the Centers for Disease Control and Prevention (CDC) and the Food and Drug Administration (FDA), ensuring safety and ethical practices.

Compare and contrast the capabilities (potencies) of embryonic and adult/somatic stem cells (giving examples of adult stem cell sources), and describe the potential uses of stem cells.

Embryonic stem cells are pluripotent, meaning they can differentiate into any cell type, while adult/somatic stem cells are typically multipotent, meaning they can only differentiate into a limited range of cell types. Adult stem cell sources include bone marrow, adipose tissue, and blood. Potential uses of stem cells include regenerative medicine, treating degenerative diseases, and tissue engineering.

Describe the basic steps necessary for somatic cell nuclear transfer (SCNT; NT-ESCs) and generation of induced pluripotent stem cells (IPSCs).

Somatic cell nuclear transfer (SCNT) involves transferring the nucleus of a somatic cell into an enucleated oocyte, leading to the development of a blastocyst from which embryonic stem cells (ESCs) can be derived. Induced pluripotent stem cells (iPSCs) are generated by reprogramming adult somatic cells through the introduction of specific transcription factors, allowing these cells to revert to a pluripotent state.

Define epigenetics (according to Riggs, 1996) and compare/contrast this definition with the perspective of Waddington (key concept: Waddington’s epigenetic landscape)

Epigenetics, as defined by Riggs in 1996, is the study of heritable changes in gene expression that do not involve alterations to the underlying DNA sequence. In contrast, Waddington's concept of the epigenetic landscape illustrates how genes interact with environmental factors during development, allowing for varied phenotypic outcomes even from the same genetic background.