8.7.1 Genome sequencing, personalised medicine and ethics Quiz: Pearson Edexcel Biology A (Salters-Nuffield), Unit 8

The 20 questions

1. What does genome sequencing determine?

   • The order of bases in an organism's DNA, using the letters A, T, C and G
   • The speed of nerve impulses along the axons, which is measured by reading the genome of the neurone
   • The number of cells in an organism, which is counted by sequencing each tissue in the body
   • The concentration of glucose in blood, which is read from the sequence of the liver genes

2. What is personalised medicine?

   • Producing medicines in a factory for all patients, which allows the same drug to be sold at low cost
   • Treating disease only with surgery, which removes the need for drugs and genetic information entirely
   • Tailoring diagnosis and treatment to an individual's genetic profile, to improve how well treatments work
   • Using the same treatment for every patient regardless of their genetics, which keeps care consistent

3. Why can genome sequencing help in choosing a drug for a patient?

   • It measures the patient's height, which determines the dose of every drug the patient needs
   • It shows how a patient's genes may affect how they respond to a drug, including side effects
   • It replaces all clinical trials, since the genome is enough to show whether a drug will work for everyone
   • It shows the colour of the patient's skin only, which is the main factor in choosing a drug

4. Which technology has allowed genome sequencing to become much faster and cheaper than in the early Human Genome Project?

   • Gel electrophoresis only, which separates DNA fragments by size but cannot read their base sequence
   • Light microscopy, which allows the bases of individual DNA molecules to be seen and counted one by one
   • Next-generation sequencing, which reads many DNA fragments in parallel and greatly lowers time and cost
   • Radioactive decay counting, which measures the amount of DNA in a sample but not its sequence

5. Which ethical concern is raised by storing a person's genome data?

   • Privacy and the risk that sensitive genetic information could be misused or disclosed without consent
   • The risk that data will make the person taller, which is a concern for families planning children
   • The cost of printing the report only, which is the main ethical issue in storing genome data
   • The risk of reducing blood pressure, which may follow the release of genetic data to the patient

6. Which of the following is an ethical issue raised by personalised medicine?

   • Medicine becomes less effective for all patients, since tailored drugs work less well than standard ones
   • Unequal access, where only some patients can afford genetic testing and tailored treatment
   • Every patient receives identical treatment, which removes any choice from the patient and their doctor
   • Genes stop affecting health, which means that genetic information is no longer useful for any patient

7. A patient has a genetic variant that makes a drug less effective. What is the most appropriate response for personalised medicine?

   • Stop all treatment, since a genetic variant means that no medicine can be useful for the patient
   • Give the same dose regardless, since the variant does not change the way the drug is handled by the body
   • Increase the dose until the effect appears, which is the standard approach for all genetic variants
   • Choose an alternative drug or dose suited to the patient's genetic profile

8. Why is it useful to know a person's genetic risk of a disease before symptoms appear?

   • It removes the need for any future healthcare, since the risk is then known and can be ignored
   • It makes the disease certain to occur, so the person can prepare for the symptoms in advance
   • It allows earlier monitoring or preventive action, which may improve outcomes
   • It changes the DNA sequence in the person's cells, which removes the risk of the disease altogether

9. A student argues that genome sequencing will always predict disease perfectly. Which evaluation is most accurate?

   • Correct, because sequencing gives a 100 per cent accurate diagnosis, which removes the need for any further test
   • Overstated, because environment, lifestyle and gene interactions also affect risk, so predictions are probabilistic
   • Incorrect, because genes never affect health, so sequencing cannot predict disease in any patient
   • Correct, because the genome fully determines all health outcomes, so prediction is always exact

10. Which ethical concern is linked to genetic discrimination?

    • People being treated unfairly, such as by employers or insurers, on the basis of their genetic information
    • Patients losing their ability to see, which is the usual result of genetic testing for eye disease
    • Hospitals using too much electricity, which is the main environmental concern in genetic testing centres
    • People being given too much medicine, which is the main risk of tailoring treatment to genes

11. Which statement describes the purpose of informed consent in genome sequencing?

    • To prevent any data from being shared with researchers, which keeps the genome data private for ever
    • To guarantee that the sequence will cure disease, so that participants know the benefit in advance
    • To make sure participants understand what their data will be used for, and agree to it
    • To remove the need for ethical review, since consent makes the research automatically acceptable

12. A large population study finds a link between a gene variant and a higher risk of heart disease. Which statement is the most appropriate interpretation?

    • The variant is associated with higher risk, but other factors also influence whether disease develops
    • The variant causes heart disease in every carrier, so all carriers will develop the disease
    • The variant has no relationship with heart disease, since the study found no effect in any individual
    • The study shows that heart disease is not genetic, since the variant is only a marker of other causes

13. What is the role of the Human Genome Project in personalised medicine?

    • It produced medicines that cure all diseases, which are now available for personalised use in every clinic
    • It replaced the need for DNA, since the reference sequence can be used in place of individual genomes
    • It identified the cell cycle, which is the main process used to tailor treatment to each patient
    • It provided a reference sequence that makes it possible to compare individual genomes and find variation

14. Which factor is most likely to limit the uptake of personalised medicine in a health system?

    • The colour of medical staff's uniforms, which can affect the trust that patients place in the clinic
    • The size of the hospital car park, which restricts how many patients can attend genetic clinics each day
    • Cost of sequencing, analysis and targeted drugs, and the need for specialist expertise
    • The number of patients who have blood, which limits the amount of genetic material available for testing

15. Which of the following is an example of a genetic test that could inform treatment choice?

    • Measuring body temperature, which can show whether a patient has a fever but cannot identify any gene
    • Checking for broken bones, which is a standard imaging test that does not involve any genetic information
    • Testing for a gene variant that affects how a patient breaks down a particular drug
    • Counting white blood cells only, which shows the general state of the immune system but not the genes

16. Why must genetic data be handled with care in research?

    • Because it cannot be stored electronically, which requires all records to be kept on paper in secure rooms
    • Because sequencing destroys the genome, which means the sample cannot be used for any later analysis
    • Because it can reveal information about relatives who did not consent, and is highly identifying
    • Because DNA is always harmful to the person who provides the sample for the research study

17. A genetic test shows a 30 per cent chance of developing a condition. A patient reads this as a certain outcome. What is the best correction?

    • The result means the condition will certainly occur, since any chance above zero is a diagnosis
    • The result means there is a 30 per cent probability, so it is a risk rather than a certainty
    • The result means the patient is immune to the condition, since a low probability gives protection from it
    • The result means the condition is not inherited, since a probability of 30 per cent rules out genetic causes

18. Which statement is the best evaluation of whether personalised medicine improves healthcare for everyone?

    • It only helps people who have no genes, since the genetic information of others makes treatment less useful
    • It always helps everyone equally, with no costs or barriers, so it benefits all patients in the same way
    • It has no benefit at all, since the same drugs work for every patient regardless of their genetic profile
    • It has potential to improve outcomes, but equal access depends on cost, data protection and healthcare systems

19. A researcher uses a sequencing technique that reads 1 million fragments per run, with each run costing 500 pounds. How many runs are needed to read 5 million fragments?

    • 10 runs, since each fragment needs two runs to be read in both directions for accurate sequencing
    • 1 run, since the technique can read all fragments in a single run if the sample is prepared correctly
    • 2 runs, since each run reads two million fragments when the samples are combined in one batch
    • 5 runs, since 5 000 000 fragments divided by 1 000 000 fragments per run gives five runs

20. Which pair correctly matches an ethical issue with its concern?

    • Privacy: data sharing without consent, which exposes personal genetic information
    • Discrimination: improving drug dosage, which makes some groups receive worse treatment
    • Confidentiality: reducing the number of DNA bases, which changes the information in the genome
    • Access: making drugs cheaper for everyone, which is a concern when prices are set too low

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