Human genome: ethics and practical applications

Inheritance, variation and evolution • Reproduction

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What was the Human Genome Project (HGP)?

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A large international collaboration that produced a reference sequence of the entire human genome and made the data publicly available .

Key concepts

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Definition and limits of the genome

The genome is one copy of all the DNA found in diploid body cells and includes around three billion base pairs organised into 23 chromosome pairs in humans . Genes are short sections of DNA within the genome that provide the code to make proteins; the remainder largely consists of non-coding regions that currently have uncertain or regulatory roles, and that vary in amount between species .

Human Genome Project and medical applications

The Human Genome Project produced a complete reference sequence of human DNA and stores the sequence in shared databases, allowing researchers to locate genes and study their functions . Locating disease-linked genes enables genetic tests that estimate the likelihood of developing some illnesses (for example certain cancers and inherited disorders) and supports the development of targeted drugs and personalised treatment strategies .

Population history and migration tracing

Comparisons of genomes across individuals and populations reveal patterns of genetic variation that reflect historical migrations and ancestry. Genetic markers and small sequence differences allow scientists to trace human origins and the spread of populations, supporting conclusions such as early human migration out of Africa . The small percentage of variation between individuals (about 0.1%) provides sufficient signal to reconstruct population relationships while highlighting close similarity across humans .

Embryo screening: methods, benefits and ethical limits

Embryo screening (genetic testing of embryos produced by IVF) identifies embryos carrying specific genetic disorders or chromosomal abnormalities before implantation. Screening reduces the risk of some inherited diseases in offspring and can inform reproductive decisions, but it also introduces ethical issues about selection, potential prejudice, access and long-term social effects . Economic limits include the high costs of fertility treatment and testing; social limits include unequal access and possible stigma; ethical limits include concerns about reproductive autonomy, privacy and potential discrimination by employers or insurers if genetic data are known publicly .

Key notes

Important points to keep in mind

Genome: one complete copy of DNA in a diploid body cell; contains genes and non-coding regions .

Human Genome Project supplies a reference sequence and accelerates gene discovery for medicine .

Genome comparisons support tracing of human migrations and ancestry through small sequence differences .

Embryo screening reduces some genetic disease risks but raises privacy, equity and selection concerns .

Economic factors include the cost of testing, treatment and possible long-term impacts on healthcare funding .

Social factors include access inequality, potential stigma and changing reproductive expectations .

Ethical factors include consent, confidentiality, potential discrimination, and whether selection alters social values .

Clinical use of genome data requires careful interpretation because genetic risk does not equal certainty of disease .