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Title page

Contents

Preface 3

Chapter 1. Introduction and overview 6

The scope of this report 8

What is genomics? 8

Genomic technologies 9

The current uses of genomics 12

The Future uses of genomics: beyond health 15

The risks and opportunities of genomic data 18

Overview conclusion 19

How to read this report 21

Chapter 2. DNA: the basics 23

What is DNA? 25

Gene inheritance and expression 28

Chapter 3. From genetic to genomic science 35

A brief history of human genomic science 37

Next generation sequencing 41

NGS vs. DNA Microarrays 44

Using sequencing to determine genotype and phenotype 45

Chapter 4. Genomics: where we are now 56

Genomic medicine 60

Direct to consumer testing 71

Forensic science 80

Synthetic biology 90

Agriculture and food 98

Environment and ecology 107

Chapter 5. The future of genomics: potential applications 114

Employment 118

Sport 125

Education 134

Criminal justice 142

Insurance 150

Genome modification beyond health 157

Chapter 6. Data, security, and public attitudes to genomics 162

Data privacy 164

Security 168

Intellectual property 169

Public attitudes to genomics 171

Chapter 7. Conclusion 177

Key areas for policy 180

Acknowledgements 182

Appendix 186

Glossary 188

Tables

Table 1. The pros and cons of using microarrays to obtain genomic data 45

Table 2. Heritability estimates for a broad range of traits 46

Table 3. Different regulatory approaches to the use of genetics in insurance 154

Table 4. A summary of key features of national genomic sequencing programmes for various countries 186

Figures

Figure 1. The essential structure of DNA, illustrating the nucleotides/bases spanning the centre of the double helix 25

Figure 2. How each three necleotides (a codon) in a gene can be translated to determine the amino acid order in a protein 26

Figure 3. Inheritance patterns of autosomal dominant and recessive disorders, with case study examples of Huntington's disease and cystic fibrosis 29

Figure 4. Polygenic scoring punnet square and frequency graph demonstrating the polygenicity of skin pigmentation 31

Figure 5. How superceiled DNA forms chromosomes, and where histones are involved in this process 33

Figure 6. The increased interest, use and publication of genomic technologies is observable over time 40

Figure 7. Sample preparation steps for NGS, involving the binding and amplification of short DNA fragments onto the substrate 41

Figure 8. Nucleotide bases can be biochemically modified to fluoresce specific colours 42

Figure 9. Fluorescent nucleotide incorporation into DNA indicates the DNA sequence during NGS 42

Figure 10. Variations in the types of DNA mutation can have different levels of downstream effect 49

Figure 11. GWAS cohort sizes are growing - but they are still largely based on populatins of European ancestry 51

Figure 12. A map outlining the national (and some international) genomic research initiatives active in 2021 65

Figure 13. The UK is at the forefront of global SARS-CoV-2 genomic sequencing efforts 68

Figure 14. The growth of DTC genomic testing has rapidly increased since 2017, with AncestryDNA and 23andMe processing the bulk of DNA genotyping services 72

Figure 15. A hypothetical example of DNA fingerprinting 82

Figure 16. The progression of synthetic genomics over the past four decades 94

Figure 17. Public perceptions on the acceptability of GMO food 104

Figure 18. Atmospheric carbon dioxide level in parts per million (PPM) 111

Figure 19. Public opinions on human genome editing for different applications since 2020 161

Figure 20. Public opinion on a British DNA database - generally and for use in crime 175

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