Assoc. Prof. Dr. Sabina Semiz International University of Sarajevo Head, Bosnia and Herzegovina Unit of the International Network of the UNESCO Chair in Bioethics

We are at the cusp of an exciting time in the world of biology We are capable to manipulate living cells in

ways that would have been unimaginable even 20 years ago.

With this new technology comes many benefits to mankind.

Genetic Profiling Using technology that interrogates

the whole genome to develop a “profile” of a large set of genetic information that provides information about complex phenotypes

Personalized Medicine Using information to tailor health

interventions specifically to individuals

Pharmacogenetics

FARMAKOGENETIKA?

Pharmacogenetics

A Breakthrough in Individualized Treatment Individualize Drug Dosing Based on Metabolic Profiling with the

AmpliChip® CYP450 Test Test identifies a patient's genotype and, based on this analysis,

provides their predicted phenotype: poor, intermediate, extensive, or ultrarapid metabolizer

The first FDA-approved test for analysis of CYP2D6 and CYP2C19. These two genes code for enzymes that metabolize many drugs.

Gene Variation Affects Tamoxifen's Benefit For Breast

Cancer Science Daily (Dec. 19, 2005) — One of the most commonly

prescribed drugs for breast cancer, tamoxifen, may not be as

effective for women who inherit a common genetic variation,

according to researchers at the University of Michigan and

the Mayo Clinic.

Tested the most common genetic variant responsible for

lowering the CYP2D6 enzyme, and found that women with

this genetic variant were almost twice as likely to see their

breast cancer return. Up to 10 percent of women inherit this

genetic trait.

CYP2D6 is responsible for activating tamoxifen to a

metabolite called endoxifen that is nearly 100 times more

potent as an anti-estrogen than tamoxifen itself.

Suggests that women who inherit a genetic variant in the

CYP2D6 gene appear to be at higher risk of relapse when

treated with five years of tamoxifen.

As the genetic basis of many complex diseases is revealed, the advantages of delivering personalized medicine are becoming more evident.

Specific promises associated with pharmacogenomics are increased drug efficacy and safety through the delivery of the right drug, for the right patient, for the right condition.

Catherine Olivier; Bryn Williams-Jones; Global Public Health 2014, 9, 312-324.

2015: 1452

Catherine Olivier; Bryn Williams-Jones; Global Public Health 2014, 9, 312-324.

• Patients are recruited prior to development of an overt diabetes (prediabetes) and prior to treatment.

• Thus, newly diagnosed diabetic patients are closely monitored for the drug effectiveness and development of adverse outcomes.

92 individuals with newly diagnosed T2D who were prescribed metformin as their initial hypoglycaemic therapy

Large-scale phenotype data were collected, such as:

Hb1Ac, FG, insulin, total and HDL cholesterol

anthropomorphic measures - BMI, waist circum. in following time intervals:

prior to therapy with metformin

6 and 12 months GI symptoms: bloating, abdominal pain, nausea, diarrhoea,

vomiting, and anorexia Explore genotype-phenotype associations

September, 2016.

With personalized treatment approach comes the need to think through the ethical issues and dilemmas that arise.

Wisely weigh the benefits against the drawbacks to make informed decisions as to what research should be encourage and what should not.

Different races and ethnicities may have a significantly different response to drugs. Consequently, race is becoming to be used to categorize patients in regards to their treatment options. Difference in frequency of genetic variants associated with drug response

between people of African and European ancestry (Tate & Goldstain, 2004).

The „nonresponder, difficult to treat genotype“ or „prone to side effects genetic variation“ were associated with the potential stigmatizing lables.

Characterize the meaning of a smaller percentage of variations or to develop drugs that are effective in individuals exhibiting those „orphan genotypes“ accross different races and ethnicities.

Near Future: Participants in GWAS/Sequencing Studies People who order Direct-to-Consumer products (23 and

me, DNA Direct, others)

More Distant Future: Patients with specific disorders may possibly obtain data

through clinical tests Who will not probably have this information? Low-income patients/patients without insurance Individuals in the developing world

Catherine Olivier; Bryn Williams-Jones; Global Public Health 2014, 9, 312-324.

The primary area of interest is onclogy, depression and psychological disorders, and coronary hearth disease.

Apparent low interest in neglected or infections tropical diseases and maternal health related conditions that are still predominant causes of mortality, accounting for 45% of deaths in LIC and 15% in MIC in 2008 (WHO, 2011).

Catherine Olivier; Bryn Williams-Jones; Global Public Health 2014, 9, 312-324.

Bioethicians are also concerned regarding the sequencing databases and direct-to-consumer (DTC) genetic tests, with the dilemmas who should have an access to this information and how is this regulated.

Pharmacogenomic applications are also finding their way into pediatric practice, where additional ethical dilemmas are introduced, particularly in regards to the informed consent, patient’s age, etc.

The ethical challenges in pharmacogenomics are becoming dominated by issues related to incidental nonpharmacogenomic findings.

Education and training in bioethics has become an integral part of biomedical curricula worldwide.

Many primary care physicians are increasingly being asked by their patients to interpret genetic data offered by commercial companies, such as 23andMe, that perform genomic analysis and claim to identify a risk of certain diseases.

It is urgent to encourage the assertive development of continuing life-long education programs for physicians and other health professionals.

Transdisciplinary capacity building programs between academic institutions, hospitals, pharmaceutical and biotech companies, professional organizations, patient groups, regulatory agencies, policy-makers, and other relevant stakeholders are essential to facilitate the implementation of personalized medicine.

Pharmacogenomics promises dramatic improvement in drug safety and efficacy

This field also raises ethical questions: Potential health disparities Stigma DTC genetic data handling

The need to protect patient privacy and confidentiality and to promote justice and equity.

Education – to ensure the professionalism and competencies expected from the healthcare professionals.

The normative values of respect for persons, human well-being, socioeconomic justice, and human solidarity and the common good - to ensure that pharmacogenomics develops in a way that promotes the good of both individuals and the broader society in the area of personalized diagnosis and treatment.

"Here's my

sequence..."

The New Yorker

Deadline for poster abstract submission:

October 15, 2016.

REGISTER:

https://bioethics.ius.edu.ba/user/register

World

Bioethics Day

“Bioethics in the Era of

Genomics and

Personalized Medicine«

Sarajevo, October 28, 2016.

Bosnia and Herzegovina Unit of the International Network of the

UNESCO Chair in Bioethics

Citizen's Health through public-private Initiatives: Public health, Market and Ethical perspectives