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HUMANNESS, GENETIC COUNSELLING AND CHROMOSOME MANIPULATION��A MEDICAL ETHICS LECTURE

DR PROSPER OKONKWO

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PRESENTATION OUTLINE

Humaneness

Genetic Counseling

Chromosomal Manipulation

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HUMANENESS- PRESENTATION OUTLINE

Understanding the humanness of the patient

A medical education gap

What humanness is and why it matters

Humanness in medical practice

Principles attributing Patient Humanness

The physician-patient relationship

Historical influences of humanness in practice

Capacity requirements for physicians

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Contextual Quote

“To most physicians, my illness is a routine incident in their rounds, while for me it’s the crisis of my life. I would feel better if I had a doctor who at least perceived this incongruity”

Anatole Broyard

Former New York Times critic

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UNDERSTANDING THE HUMANNESS OF THE PATIENT

Patients are more than just “cases”.

Doctors tend to get drawn into perceiving patients for instance, as “Patient X is a great hemiplegia case” or “Patient Y is an excellent example of microcephaly”.

There are diverse ways in which humanness can be denied to people.

This is referred to as dehumanization and happens when we perceive people as lacking human characteristics.
Sometimes this is a subtle, often goes unnoticed and becomes “acceptable”.
As shown above doctors in practice can be guilty of dehumanization.

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A MEDICAL EDUCATION GAP

The “science” of medicine is thus well taught in medical schools but the “art” (as referred to by Hippocrates) of medicine is not.

This approach only creates doctors with limited aptitude for holistic medical practice.
For example: Medical students don’t always get marks for friendly case presentations or polite and endearing mannerism towards the patient!

Despite the obvious need, it is still unclear how medical ethics can sufficiently be integrated into medical education methods.
Concepts borrowed from fields of humanities and social sciences provide guidance to the subject in medical practice.

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HUMANNESS-WHAT IT IS AND WHY IT MATTERS

Humanness can be defined as the quality of being human.

Quality refers to both the essential and distinguishing attribute of a person.
In considering the essence or humanity of the patient, critical reflection aimed towards a more humane medical practice is required.
In considering individuality, attention must be given to patients’ cultural, social, and family contexts.

Both considerations provide a more accurate interpretation of the patient’s narrative which attributes to their unique experiences, values and belief.

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HUMANNESS IN MEDICAL PRACTICE

Treating the patient humanely considers a patient’s humanness.

This can be defined as “caring for a patient as one would care for his or her loved one”.

How would a physician care differently for the patient if he or she were perceived as a loved one?

The absence of cruelty is not the presence of humanness.

Being humane is more than just being civil or polite to the patient.

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ATTRIBUTING PATIENT HUMANNESS-PRINCIPLES

Attributing humanness to a patient in practice must take into consideration key ethical principles.

The key ethical principles attributing patient humanness include:

The respect for persons or autonomy (allowing self-determination)
Beneficence (do good – maintain or improve health)
Non-maleficence (avoid evil)
Justice (allocation of resources), and
Veracity (truthfulness and establishing trust)

Each principle should guide the physical in all deterministic action inclusive of the physician-patient relationship.

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THE PHYSICIAN-PATIENT RELATIONSHIP

It is clear however we define humanness in medicine, it is related to the concept of physician-patient relationship.
The spotlight on pathology and disease with a failure to understand illness and patient reality often leads to problems in communication, patient dissatisfaction and “doctor shopping”.

The quality of this relationship is important to both. The better the relationship in terms of mutual respect, knowledge, trust, shared values and perspectives about disease and life, and time available.

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EXAMPLE 1. TUSKEGEE SYPHILIS STUDY

The Tuskegee Syphilis Study is an infamous clinical study conducted by the U.S. Public Health Service to study the progression of untreated syphilis in poor black men in Alabama.

This experiment took place between 1932 and 1972 and tricked participants into thinking they were receiving free health care from the government. The participants were unaware they would be infected with syphilis and left untreated.

After a leak to the press, the experiments stopped, and the Office for Human Research Protections (OHRP) was established, and federal laws put in place that required Institutional Review Boards for studies that involve human subjects.

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EXAMPLE II. ROE VS WADE

The 1973 decision of Roe v. Wade is still debated heavily in politics. Before this case, most of the United States’ laws only allowed women to get abortions if the life of the mother was in danger.

The Supreme Court ruled in this case that the states was forbidden from outlawing or regulating abortions performed during the first trimester of a pregnancy.

Although the court ruling was about 40 years ago, this is still an issue for many that believe abortion is unethical.

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CAPACITY REQUIREMENTS FOR PHYSICIANS

In addition to sound medical judgement, physicians must build so called soft skills in humanities

This include good listening skills, open-mindedness, creativity, and curiosity.

These skills are requisite to contextualizing a patient’s clinical condition in the background of his socio-demographics, family and culture and perceiving their experience.

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��GENETIC COUNSELING.�

ETHICAL CONSIDERATIONS OF HUNTINGTON'S AND LESSONS FOR MEDICAL PRACTICE

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GENETIC COUNSELING- PRESENTATION OUTLINE

Rationalizing genetic testing

Ethical issues surround genetic testing

Case study: Huntington’s disease

Understanding Huntington’s disease

Patient apathy for testing

Familial considerations

Privacy considerations

Medical practice applications

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RATIONALIZING GENETIC TESTING

The decision to consider genetic testing usually arises when confronted with adult-onset genetic disorders.

These diseases are usually progressive and have long-term health consequences

Genetic testing becomes expedient when the consequences of the specific disorder is avoidable or treatable.

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ETHICAL ISSUES AROUND GENETIC TESTING

Ethical issues arise however when preventative measures or treatments are not available for the disorder

For instance, consider a 22 year old female who is found to have a certain genetic mutation that is strongly associated with a fatal disorder.

Would she get the job or the promotion she applied for?
How would this information affect her family and social life?
Would she be able to buy health insurance?

Answers above show genetic testing for potentially lethal disorders is an area fraught with ethical, legal, and social concerns.

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CASE STUDY: HUNTINGTON’S DISEASE

Huntington's disease (HD), a genetic disorder associated with the progressive death of neurons in parts of the brain, underscores ethical concerns.

Symptoms of HD include uncontrolled movements, loss of mental abilities, and emotional disturbances.

Death from related complications usually occurs 10 to 30 years following onset of symptoms.

There is currently no treatment for this disease, nor is there anything an affected person can do to prevent the inevitable onset of symptoms.

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HUNTINGTON’S DISEASE

HD is an autosomal dominant disorder with complete penetrance.

The child of a person with HD has a 50% chance of developing the disease.
Given the age of onset of symptoms, many individuals have already passed the disease to their children before their own diagnosis.

HD arises from a mutation in the coding region of the Huntington’s gene (1992).

Normally, this gene contains between 7 and 35 CAG repeats. In a person with HD, however, the gene contains more than 35 repeats.
The more repeats present, the earlier the age of onset of HD

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PATIENT’S APATHY FOR TESTING

Genetic testing is available to those at risk for the disease and can indicate with certainty whether an individual is affected.

Many people opt not to be tested however.

A 13-year Canadian study showed that only 3-24% of at-risk individuals got predictive testing even when surveys projected 66-79% would seek testing on the availability of testing services.

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FAMILIAL CONSIDERATIONS

You learn you had inherited the HD mutation.

Would you decide to have children of your own and risk passing the gene on to your children?
Assisted Reproductive Technology presents an option ensuring unaffected embryos develop to term, but what if you already had children? Would you still get tested?
What if test results indicated that you were likely to begin showing symptoms at age 40? How might this affect the way you live your life?
Conversely, what if testing revealed that you had not inherited the mutation, but that your siblings and their children had?
Will you simply choose not to get tested at all?

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FAMILIAL CONSIDERATIONS (CONT.)

So you agree to do the test and your risks are known. This however births a new family-related dilemma: Are you obligated to tell your relatives?

This question exposes a flaw in the well-established medicolegal principles of confidentiality and privacy – putatively, it is ethical to disclose, but there’s no legal requirement to do so.

Should your medical professional get involved if you don’t want to?

If preventative treatment options are available, a greater imperative to breach confidentiality may be felt if disease is perceived to affect others.

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PRIVACY CONSIDERATIONS

One may consider genetic testing if genetic predispositions can potentially be used against them.

Employers may reconsider employees if he or she is likely to be diagnosed with an ailment
Health insurance may be difficult to obtain especially if management of a disease is costly.

It is unfair to discriminate against a person's genetic predispositions since they cannot control their genes.

Some laws protect against genetic discrimination in the USA.

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MEDICAL PRACTICE APPLICATION

The choice to undergo genetic testing is a highly personal one

Medical professionals must delicately balance all ethical principles when dealing with patients with genetic disorders.

A person's decision on what to do with the information gained in genetic testing depends on various factors.

Perceived preventability and treatability of the disorder.
One’s ability to make constructive life changes.
Associated family, social and other discriminatory consequences.

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CHROMOSOMAL MANIPULATION

Chromosome therapy, ethical considerations and fetal implications

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CHROMOSOMAL MANIPULATION. PRESENTATION OUTLINE

About chromosome abnormalities

Concept of Chromosome manipulation

Risk-benefits of chromosome manipulation

Implication for the patient

Implication for the unborn

Medical practice applications

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CHROMOSOME ABNORMALITIES

Chromosomal abnormalities are genetic conditions resulting in complex and multisystem diseases that occur due to a problem with one or more of the 23 pairs of chromosomes.

Aberrations occur commonly during fetal development.

These aberration can also be detected during these early stages

In many cases, there is no treatment or cure for chromosomal abnormalities.

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CONCEPT OF CHROMOSOME MANIPULATION

Several new approaches are being devised for clinical use that target whole chromosomes in-vitro

These are selectively referred to as "Chromosome Therapies.“

Chromosome therapeutic techniques involves the addition of extra set(s) to the existing complement or replacement with a duplicate set of chromosomes from the same individual from either parent.

In a breakthrough experiment in August 2013, a team “silenced” the extra chromosome 21 that causes Down’s syndrome.

This involved inserting a transgene into the DYRK1A locus of C21 using genome editing techniques resulting to chromosome-wide transcriptional silencing and DNA methylation.

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RISK-BENEFITS CHROMOSOME MANIPULATION

This intervention can only happen in very early stages of development for its effect to be translated to all cells.

While it could spare future generations in a family from having a particular genetic disorder, it might affect the development of a fetus in unexpected ways or have long-term side effects that are not yet known.

Chromosome manipulation involves trisomies comprising of hundreds of genes making complex downstream effects difficult to study.

Recent studies also suggest that some of the artificial chromosomes created by other groups might not be as stable as real chromosomes.

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IMPLICATIONS FOR THE PATIENT

The pregnant patient is a vulnerable subject, and even more so when a serious fetal condition is diagnosed.

The patient may be impressed to participate in clinical research that offers this alternative.

If chromosomal therapy is proven to be effective and safe, patients carrying a fetus with trisomy 21 who have decided to continue the pregnancy may have a moral obligation to make use of the option.

It is hypothesized that prenatal interventions will give better chances at improving cognitive functioning in persons with Down’s Syndrome than postnatal treatment.

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IMPLICATION FOR THE UNBORN

Implications for the fetus / unborn child are still unclear.

Because individuals are not yet born, they can’t choose whether or not to have the treatment.

Apart from living with unintended consequences, if any, future generations may also be at risk.

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MEDICAL PRACTICE APPLICATIONS

Doctors inviting pregnant women to participate in clinical research for this and any other experimental therapy should be based on adequate pre‐clinical trials and the total truth about it.

Information should be aimed at avoiding the so‐called ‘therapeutic misconception’.

The absence of evidence must be disclosed, and therapy should only be undertaken with full voluntary consent of the mother.

Treatment must be undertaken within well designed and approved trials and only by experts in the treatment modality.