Prof. Dr. Vladimir Trajkovski presented "Ethics in Human Genetics" at the conference at Klaipeda University in Lithuania on 27.10.2023 via ZOOM platform

1. Ethics in Human Genetics
Prof. Dr. Vladimir Trajkovski
Klaipeda, online 27.10.2023 1
University “St. Cyril and Methodius”
Faculty of Philosophy
Institute of Special Education and Rehabilitation
Macedonian Scientific Society for Autism

2. 2

3. What is Ethics?
•Establishment of a set of guidelines for morally
acceptable conduct within a theoretical
framework.
•Used to help understand the basic themes
underlying and governing society’s moral
behaviour (common code of conduct).
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4. What is an Ethical Dilemma?
•An ethical dilemma involves the need to choose
from among two or more morally acceptable
courses of action, when one choice prevents
selecting the other; or, the need to choose
between equally unacceptable alternatives.
(Hamric, Spross, and Hanson, 2000).
http://learn.gwumc.edu/hscidist/Learning
Objects/EthicalDecisionMaking/index.htm
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5. What is Human Genetics?
• Human genetics is the study of inheritance as it occurs
in human beings.
• Human genetics encompasses a variety of overlapping fields
including: classical genetics, cytogenetics, molecular
genetics, genomics, population genetics, developmental
genetics, clinical genetics, and genetic counseling.
• Inheritance of traits for humans are based upon Gregor
Mendel's model of inheritance.
• Mendel deduced that inheritance depends upon discrete
units of inheritance, called factors or genes.
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6. Medical Genetics
• A group of medical professionals involved in providing
diagnosis, treatment and information on genetic conditions.
• Geneticists: MDs involved in examination and diagnosis.
• Genetic counsellors: Health professionals with
specialized graduate degrees and board certification
• Provide information and the option of testing to
individuals/families with, or at risk for, genetic
disorders.
• Provide supportive counselling to families, serve as
patient advocates and refer families to support
services.
• Educators/resource people for other health care
professionals and the general public.
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Interaction of genes and environment

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9. What is Genetic Counselling?
Genetic counselling is a communication
process... the purpose of which is to help an
individual or family comprehend the
diagnosis, resources and options available to
them.
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10. Genetics Raises Ethical Issues
• Information is familial (non-individualistic)
• This raises privacy issues
• Implications for reproduction
• Effects on future generations
• Emotional impact
• Predictive value of test results may be limited
• Value of genetic information
• Knowledge vs. medical benefit
• Association with stigmatization
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11. Risks of Genetic Testing
• Detection of non-paternity
• Stigmatization
• Including survivor guilt
• Insurance, employment, emigration discrimination
• Psychological harm
• Effect on family members and relationships.
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12. Framework for Analyzing Cases
Principle-based Ethics
• Assess the situation
• Identify parties involved
• Identify ethical problems and
considerations (influencing factors
and barriers)
• Identify principles involved
• Decide on course of action based on
ethical principles, patient needs,
standard practices and the law
• Assess outcomes
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13. Ethical Principles
1. Autonomy: Being free to make one’s own decisions
(free of coercion)
2. Beneficence: Doing the right thing, promoting well-
being
3. Nonmaleficence: Doing no harm
4. Justice: Being fair, equal benefit/burden distribution
• Rule of Fidelity: To keep all contracts and promises
• Rule of Veracity: To tell the truth, be honest
• Rule of Confidentiality: To not disclose information
shared in an intimate manner
• Rule of Privacy: To respect limited/restricted access to
a person 13

14. Autonomy
A person’s right to choose freely, based on
adequate information, without coercion
Have you
thought about whether
you want to take
the genetic test?
Yes.
I’ve decided not
to be tested.
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15. Beneficence
It’s scary to
know that I have
such a high risk
of colon cancer.
Your risk can
be greatly reduced
with regular
screening and
removal of polyps.
Acting to improve patient welfare 15

16. Nonmaleficience
I want my
daughter to have
genetic testing.
Let’s discuss
those issues.
Do not harm
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17. Why should be concerned about Ethics in
Genetic Research?
• Historically, genetics has been blamed to have been used as
a tool for eugenics through prenatal diagnosis and
termination of the pregnancy if the foetus was abnormal.
• Others have tried to create designer babies, or attempted to
clone some individuals to generate ‘perfect humans’. These
misguided attempts to improve the human race have been
frowned upon by the majority of people.
• As the cost of performing tests has come down this has led
to mushrooming of genetic laboratories at times offering
tests of questionable utility.
• The developing countries have lagged in enacting suitable
legislation in controlling these laboratories to ensure the
quality of the tests.
• Strict guidelines are needed so that genetic tests are
performed adhering to ethical and professional guidelines,
and create some mechanism to enforce these guidelines. 17

18. What Activities in Genetic Research Demand
Special Attention to Ethical Principles?
•Activities that require special attention are:
genetic testing which is of many types,
genetic counselling,
prenatal diagnosis,
assisted reproductive technologies,
manipulation of embryos and genes, and
clinical trials for new therapies.
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19. What is the Revolution that Genetic Tests are
Going Through?
• The human genome project marked the complete sequencing
of the human genome.
• This saw the sequencing technologies achieve
unprecedented speed and at the same time reduce
tremendously the cost. This was called next generation
sequencing (NGS) and propelled the performance of genetic
testing to unimaginable heights.
• Genetic tests that would earlier cost US 2000 to the US $3000
could now be done for the US $300.
• Instead of sequencing one gene, we could sequence a panel
of genes varying from 10 to 1000 or more, the exome (all the
protein-producing genes) and even the whole genome (which
including the non-coding DNA—the introns).
• Changes have taken place in cytogenetic tests and
karyotyping has mostly been replacing by microarray studies
which can delineate much smaller changes in the
chromosomes. 19

20. Ethical Issues in Next Generation Sequencing
(NGS)
• Exome or whole-genome yields a vast amount of information
about the genes to be tested as well as other genes. Significant
changes in the gene relevant to the phenotype have of course
to be disclosed.
• There is a consensus of the genetic societies that patients
should be informed about changes in genes of high clinical
importance such as that led to breast cancer or heart disease.
• Another ethical issue associated with NGS data is that the
patient has a right not to know the incidental findings, and such
wishes should be respected.
• Disclosure of some results raises several sensitive human
rights issues, such as the possibility of discrimination and social
stigma for obtaining health or life insurance or employment.
• USA has enunciated in 2008 the Genetic Information
Nondiscrimination Act (GINA) that forbids discrimination on
genetic data, but such a law does not exist in most developing
countries.
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21. Other Ethical Dilemmas in Human
Genetics
• Right to know/right not to know
• Duty to warn/inform
• Duty to re-contact
• Testing without informed consent
• Adoption issues
• Pre-adoption testing, post-adoption duty to warn
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22. Preventing Ethical Dilemmas in Clinical
Practice
• Detailed genetic counselling!
• Attempt to anticipate dilemmas that may arise and
address them upfront with patient
• ie. non-paternity may be revealed, risks apply to other
family members, disclosure of information to family,
physicians, insurance
• Informed consent.
• Keep current on published policies.
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24. Examples of Ethical Dilemmas About
Genetic Testing Throughout the Lifecycle
• Preconception/Prenatal
• Request for gender selection for non-medical
reasons
• Request prenatal testing for adult-onset conditions
• Request testing in order to have an affected child
• Childhood/Adolescence
• Parents request predictive testing for adult-onset
conditions
• Adulthood
• Adult child requests testing for adult-onset condition
when parent’s status is unknown. 24

25. When Should Genetic Testing be
Considered for Children?
• Consider the age of onset of the condition
and
• Are there any effective interventions?
and
• Can the test be adequately interpreted?
• Examples: retinoblastoma, aniridia, choroideremia,
MEN 2A and 2B (standard of care).
ASHG/ACMG Report. Am J Hum Genet 57:1233, 1995
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26. Special Issues in Testing Children
• Respect child’s autonomy
• Provide informed consent/assent, considering:
• intellectual capacity and developmental stage
• family dynamics (eg, fragile child syndrome,
parent bonding)
• Consider implications for:
• family-planning decisions by parents/the child in the
future
• management of potentially affected siblings in
childhood
ASHG/ACMG Report. Am J Hum Genet 57:1233, 1995
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27. Other Ethical Considerations
Emerging duties may include:
• Duty to re-contact: Following up and re-contacting
patients if new information becomes available
• Invite patient to contact clinic should any relevant
changes occur (new information from relatives) and
for testing/research updates
• Warning of risk to others
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28. Ethical, Legal, and Social Issues in
Genetic Testing: key points
• Anticipate and discuss potential ethical, legal, and
social issues before testing
• Encourage family involvement and a shared approach
to decision making
• Take care to avoid coercion by relatives or health care
providers
• Stay informed about state and federal laws to prevent
genetic discrimination and protect privacy.
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29. Ethics of Genetic Testing
• When a new disease-associated gene is discovered, a
genetic test may soon follow
• Many people in positions of authority believe in genetic
determinism, that all human traits are encoded in DNA,
this is an oversimplification of the truth
• Is genetic testing a new form of eugenics?
• Who has the right to know the results of your test?
• Who has the right to obtain your DNA for genetic testing?

30. Life Insurance and Genetic Testing
• British life insurance companies can use data from 8
genetic tests, including breast cancer, colon cancer,
Alzheimer’s, and (as of 2000) Huntington’s disease.
• In the latter case, people who test positive can be denied
insurance (with the exception of the basic life insurance
needed to buy a house in the U.K.)
• Shouldn’t those who are free of a disease pay lower rates
than those who test positive?

31. A number of factors must be considered to decide
whether an individual test is beneficial to the
patient
Utility of Genetic Tests

32. Conclusions
• Genetics and ethics have had numerous convergences
and divergences over time.
• Ethical issues are common in genetics because of the
nature of genetic information.
• The complex interaction between genetics and ethics
demonstrates the need for an interdisciplinary
approach to assess the adequacy of genetic practices
and the ethical reflections about them.
• The identification of human genes poses problems
about the use of resources, and about ownership and
use of genetic information, and could lead to
overemphasis of the importance of genetic make-up.
• Genetic screening raises problems of consent,
stigmatization, discrimination and public anxiety.
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+389-2-3116-520 (234)
+389-2-3118-143
vladotra@fzf.ukim.edu.mk
http://vladotra68.blogspot.com
Prof. Dr. Vladimir Trajkovski
@vladotra
http://www.linkedin.com/profile/VladimirTrajkovski
@vladotra1968
https://www.youtube.com/@vladotra