HUMAN GENETICS : PRESENT AND FUTURE

ETHICAL PROBLEMS: MEDICAL GENETICS OF THE MORAL

PROBLEMS OF SPECIFICITY
Human Genetics

Human genetics is the scientific study of how traits and characteristics are inherited and how genetic variations
influence human biology, health, and disease.
Fundamental Concepts
1. DNA and Genes
DNA Structure: DNA (deoxyribonucleic acid) is composed of two strands forming a double helix. It contains the
genetic instructions for the development, functioning, growth, and reproduction of all known organisms.
Genes: Segments of DNA that code for proteins or functional RNA molecules. Humans have approximately
20,000-25,000 genes.
2. Genetic Variation
Mutations: Changes in the DNA sequence. Mutations can be benign, harmful, or beneficial, and they contribute
to genetic diversity.
Polymorphisms: Common variations in the DNA sequence among individuals in a population. Single nucleotide
polymorphisms (SNPs) are the most common type.
3. Inheritance Patterns
Mendelian Inheritance: Traits determined by a single gene follow Mendel's laws (dominant and recessive
inheritance patterns).
Complex Traits: Traits influenced by multiple genes and environmental factors, such as height, color, and
susceptibility to many diseases.
 Present state of human genetics

1. Genome Sequencing:
Technological Advances: The cost and speed of genome sequencing have dramatically improved since the Human
Genome Project, enabling more comprehensive studies and personalized medicine.
Clinical Applications: Whole-genome and whole-exome sequencing are increasingly used in diagnosing genetic
disorders, guiding cancer treatment, and understanding rare diseases.
2.Genetic Testing:
Direct-to-Consumer (DTC) Tests: Companies like 23andMe and Ancestry.com offer genetic testing for ancestry,
traits, and health risks, although their accuracy and clinical utility vary.
Clinical Genetic Testing: Used to diagnose inherited conditions, predict disease risk, and inform treatment
decisions.
3. CRISPR and Gene Editing:
Therapeutic Potential CRISPR-Cas9 technology enables precise gene editing, offering potential cures for genetic
disorders such as sickle cell anemia and cystic fibrosis.
Ethical Concerns: Issues around gene editing, particularly germline editing (which affects future generations), raise
ethical questions about safety, consent, and potential misuse.
Future prospects of human genetics

1. CRISPR and Gene Editing:

Advanced gene-editing technologies like CRISPR-Cas9 offer potential cures for genetic disorders but also raise
ethical questions about human enhancement and gene editing in embryos.
2. Population Genetics:
Studying genetic variations within and between populations to understand evolutionary processes and improve
medical research and treatment for diverse groups
3 .Integrative Genomics:
Combining genomic data with other types of biological data (proteomics, metabolomics) to gain a holistic
understanding of human biology and disease mechanisms.
Ethical Problems
What are some ethical issues in human genetics?
There are a few ethical dilemmas that cause people concern. Being able to actually procure the information that lies in the DNA's
structure could result in people being discriminated against for a job or insurance coverage. Another issue that causes controversy
is the prospect of selection of fetuses during pregnancy

What are the ethical principles in medical genetics?

Ethics principles, which are based on the physician-patient relationship, like respect for the autonomy of persons, beneficence,
non-maleficence, and justice applied in medical field cover most of the ethical issues in medical genetics.