Genetics in A Level GCE Biology and International Baccalaureate ...

National Genetics Education andDevelopment CentreGenetics in A level GCE Biology andInternational Baccalaureate Biology Courses:the foundation to a genetics education continuumAn overview for the teachers ofhealth professional undergraduatesRob Newton, Peter FarndonlearninggeneticsteachingeducationresourcesclinicalhealthpracticeMarch 2008Supporting genetics education for healthwww.geneticseducation.nhs.uk

Project Team• Mr Robert NewtonProfessor Peter Farndon© 2007 NHS National Genetics Educationand Development CentreAll rights reserved. No part of thispublication may be reproduced ortransmitted in any forms or by any means,without permission.First published 2007Birmingham: NHS National GeneticsEducation and Development Centre.ISBN 978-0-9556680-4-3Copies available from:The NHS National Genetics Educationand Development CentreMorris Housec/o Birmingham Women’s HospitalEdgbastonBirminghamB15 2TGPhone: 0121 623 6987www.geneticseducation.nhs.ukThe work of the NHS National GeneticsEducation and Development Centre isfunded by the Department of Health andWelsh Assembly Government.

Genetics in A level GCE Biology and International Baccalaureate Biology CoursesGenetics in A level GCE Biology andInternational Baccalaureate Biology Courses:the foundation to a genetics education continuumAn overview for the teachers ofhealth professional undergraduatesContents1. Summary 42. Introduction 63. Background: Genetics in Pre-University Education 84. Aims of this report 105. Obtaining evidence for this report 126. The genetics content of A Level Biology Courses 147. The genetics content of International Baccalaureate Biology Courses. 208. Assessment 249. Summary of findings 2610. Applying the findings to pre registration healthprofessional genetics teaching 2811. Sources of further information 2912. Resources to support advanced level Biology Topics 3013. References 31P3ONE

SUMMARY

Genetics in A level GCE Biology and International Baccalaureate Biology Courses1. Summary• The NHS National Genetics Education andDevelopment Centre was established in2004 to integrate relevant geneticseducation across the NHS. The Centre iscurrently working with medicalprofessionals, nurses, midwives and healthvisitors, pharmacists and dietitians.• The Centre has developed a continuum ofgenetics education based around thelearning outcomes for pre-registrationhealth professional students that underpinsubsequent clinical practice. Learning inpractice focuses on clinical competences;activities based on the patient pathway.This report will provide undergraduateeducators with information about thegenetics topics that students could havepotentially covered at pre-university level.• Data was analysed from the AS (AdvancedSupplementary) and A2 (A level) Biologyand Human Biology specifications of thefive examination boards in England andWales as well as the InternationalBaccalaureate Biology curriculum.• Students who have taken AS, A level orInternational Baccalaureate Biology,regardless of examination board, will havecovered the following genetics topics:• The structure of prokaryotic andeukaryotic cells• The cell cycle• The stages of mitosis• The significance / role of mitosis• The role of meiosis in producinghaploid cells• The structure of nucleotides• The structure of nucleic acids (includingbase pairing and hydrogen bonding)• The semi-conservative replication ofDNA(including the role of DNApolymerase)• The nature of the genetic code• Transcription• Translation• The information collated in this reportcould be used by health professionaleducators to inform the design ofpre-registration courses in genetics.P5ONE

NHS National Genetics Education and Development Centre2. IntroductionThe publication of the initial sequencing and analysisof the human genome in February 2001 highlightedthe potential impact of genetics on future patientcare:The scientific work will have profound long-termconsequences for medicine, leading to theelucidation of the underlying molecular mechanismsof disease and thereby facilitating the design in manycases of rational diagnostics and therapeutics aimedat those mechanisms.(Human Genome Sequencing Consortium, 2001)There was subsequent acknowledgement thateducation would need to reflect these developments.A report published by the Public Health GeneticsUnit in 2003 highlighted the importance of geneticseducation for UK health professionals. Itrecommended the integration of more geneticsconcepts into curricula during review processes andthe 'active marketing' of genetics in other parts ofthe curriculum(Burton, 2003).Following recommendations in the Genetics WhitePaper (Department of Health, 2003) the NHSNational Genetics Education and DevelopmentCentre was established in 2004 with the remit toencourage the integration of relevant geneticseducation across the NHS. At present, the Centre isco-ordinating programmes of work with medicalprofessionals, nurses, midwives and health visitors,pharmacists and dietitians.INTRODUCTIONP6

Genetics in A level GCE Biology and International Baccalaureate Biology CoursesIn collaboration with a range of stakeholders,the Centre has developed learning outcomesin genetics for a number of healthprofessional groups. At undergraduate levelthese introduce core genetics concepts usingclinical examples to highlight the relevance topatient care. At postgraduate level, whererelevant, this education builds upon thisundergraduate underpinning with specialtyspecific genetics concepts and skills. Atpractitioner level genetics education isstructured around genetics workforcecompetences reflecting genetics activitiesappropriate to health professionals' clinicalroles. These learning outcomes do not exist inisolation but form a continuum of geneticseducation appropriate to the stage that ahealth professional is at in his or her career(Figure 1). It is important that the continuumbuilds upon the conceptual framework andfactual information gained in pre-universityexaminations. The NHS National GeneticsEducation and Development Centre thereforeidentified that it would be helpful for thoseplanning and delivering undergraduateeducation in genetics to have an overview ofwhat students might have previously coveredin their pre-university studies.This report will examine the genetics contentof pre-university biology courses in Englandand Wales: A level GCE Biology and theInternational Baccalaureate DiplomaProgramme.UNDERGRADUATEPRACTITIONER• A discrete course for coregenetics concepts• Integration of geneticsexamples into othercourses• Use of real clinicalexamples to introducemajor concepts• Relevance to patient carePOSTGRADUATE• Expansion ofthe underlyingconcepts and skillsappropriateto the specialty• Workforce competencesappropriate to the roleundertaken• 'Just in time' informationFigure 1: The continuum of genetics educationP7ONE

NHS National Genetics Education and Development Centre3. Background: Genetics inPre-University EducationAdvanced Level GCE BiologyIn 2000, the traditional structure of the GCEA level system was altered with theimplementation of 'Curriculum 2000.' Thiswas in response to criticism that students inEngland were specialising their subjectchoices too early (for example taking mathsand three sciences). Curriculum 2000 dividedthe A level into two parts, AS (AdvancedSupplementary) and A2. An AS is taken in thefirst year of the A level course. At the end ofthe year, the student can choose either toclaim the qualification and not take thatsubject any further, or continue thequalification and then take A2 modules inthat subject to entitle them to the award of afull A level. The aim for these changes was forstudents to take AS courses in four or fivesubjects, therefore decreasing their level ofspecialism (Bell, Malacova and Shannon,2005). In 2001-2002 period, 44,369 studentswere examined in A level Biology(Department for Education and Skills, 2008).Genetics in Advanced Level BiologyIn 2003, the Wellcome Trust commissioned areport into 'A level Biology, Higher Educationand Research in the Biological Sciences' fromthe Centre for Education and Industry at theUniversity of Warwick. Genetics was one ofthe topics in the A level course for which bothstudents and teachers showed a strongpreference, the students highlighting inparticular the opportunities to discuss ethicalissues. However, a point raised by universitytutors was that the A level course focused onthe chemical, genetic and cellular level, thuspreventing students from appreciating a moreholistic whole organism viewpoint. The tutorsalso discussed the issue of the incorporationof new topics into the syllabus, stating thatthe new topics chosen should be included inthe belief that they will have lasting scientificsignificance. Using cell biology and geneticsas two examples, the tutors felt overall that Alevel biology course content has respondedto developments in biological science(Centre for Education and Industry, 2003).International BaccalaureateThe International Baccalaureate (IB) Diplomaprogramme is an internationally recognisedcourse designed for 16-19 year olds, showingan ever-growing increase in popularity(Hayden and Wong, 1997). One hundred andtwenty-one schools in the UK are currentlyoffering the programme (InternationalBaccalaureate Organization, 2008). Its aim isto promote a balanced educationhighlighting international understanding andcitizenship and offering flexibility of subjects,allowing students to choose optionscorresponding to their interests andcapacities (International BaccalaureateOrganization 2002a).The IB programme is based around a coreconsisting of three compulsory components:'Theory of Knowledge,' 'Creativity, Actionand Service' and an extended research essayof four thousand words. The core issurrounded by six subject groups. Thestudent chooses a subject course from eachof them:1 Language (the student's first language)2 Second language3 Individuals and societies4 Experimental sciences5 Mathematics and computer sciences6 The artsBACKGROUND: GENETICS IN PRE-UNIVERSITY EDUCATIONP8

Genetics in A level GCE Biology and International Baccalaureate Biology CoursesWhen the students choose between thesubject options within each of these groups,they also have to decide whether to take thissubject at standard level (150 teaching hours)or higher level (240 teaching hours). Thisallows them to specialise in some subjectsover others. Students must take either threeor four subject groups at higher level.Within the 'experimental sciences' subjectgroup, students can choose between:• Biology• Chemistry• Physics• Environmental Systems(at standard level only)• Design TechnologyBiology within the InternationalBaccalaureate Diploma ProgrammeThe aim of the biology course, as with all ofthe group 4 subjects, is to make studentsaware of how scientists work andcommunicate with each other.There is a strong emphasis on experimentalapproaches and practical work.The structure of the biology course (figure 2)differs depending upon whether the studentdecides to opt for this subject at standard orhigher level. The theoretical part of thecourse begins with a biology core unit, whichis taken by both standard level and higherlevel students. The core is then extended byhigher level students with the additionalhigher level (AHL) unit. Subsequently, bothstandard and higher level students takemodules from a number of options, althoughthe higher level students complete moreteaching hours on these topics.If a student wishes to choose two sciencesubjects, she or he can do so by taking thesecond science subject instead of a group 6arts subject (International BaccalaureateOrganization, 2002b).INTERNATIONAL BACCALAUREATE BIOLOGYSTANDARD LEVEL STRUCTURE HIGHER LEVELTheory:80 hours Core 80 hours30 hours Options 45 hours----- Additional Higher Level 55 hours(AHL)Practical:30 hours Investigations 50 hours10 hours Group 4 project 10 hours150 hours Total teaching time 240 hoursFigure 2: The structure of the International Baccalaureate Biology CourseThe practical component of the courseconsists of investigations and a project. Theproject is completed by both standard andhigher level students. The investigations arealso completed by both sets of studentshowever the higher students complete anextra twenty hours of investigations ascompared to those at standard level.P9ONE

AIMS OF THIS REPORTP10

Genetics in A level GCE Biology and International Baccalaureate Biology Courses4. Aims of this reportThis report will present findings following an analysisof the genetics content of AS, A2 and InternationalBaccalaureate Biology syllabuses.It will:• Highlight the genetics topics thatpre-registration health professionals shouldbe familiar with if they have undertakenBiology courses.• Investigate the depth and detail to whichthis content is covered.• Identify sources of further information foreducators in genetics at the schools ofhealth professional education.• Suggest ways in which this syllabusinformation can be incorporated intogenetics teaching to health professional students.• Signpost useful educational resources tosupport the delivery of these genetics concepts.P11ONE

NHS National Genetics Education and Development Centre5. Obtaining evidence for this overviewAS and A2 Biology CoursesA number of examination boards in theUnited Kingdom offer AS and A level Biologycourses. The decision of which examinationboard to use is normally made at the schoollevel, although it may be left to theinstitution's science department or head ofbiology. The Qualifications and CurriculumAuthority (QCA) website was consulted toidentify the examination boards that currentlyoffer an A level Biology course.These were:• The Assessment and QualificationsAlliance (AQA)• Council for the CurriculumExaminations and Assessment (CCEA)• Edexcel• Oxford Cambridge and RSAExaminations (OCR)• Welsh Joint Education Committee(WJEC)The examination boards' websites were thenvisited in turn and their most recent A levelBiology or Human Biology specification wasdownloaded. These were:• AQA AS and A level GCE BiologySpecification A (2008)• AQA AS and A level GCE HumanBiology Specification A (2008)• AQA AS and A level GCE BiologySpecification B (2008)• CCEA AS and A level GCE Biology(2005)• Edexcel AS and A level GCE Biology(2004)• Edexcel AS and A level GCE Biology(Human) (2004)• Edexcel AS and A level GCE Biology(Salters-Nuffield) (2005)• OCR AS and A level GCE Biology(2001)• OCR AS and A level GCEHuman Biology (2001)• WJEC AS and A level GCE Biology(2007 & 2008)OBTAINING EVIDENCE FOR THIS OVERVIEWP12

Genetics in A level GCE Biology and International Baccalaureate Biology CoursesEach of these was analysed for its geneticscontent, producing a list of over 60 topics.The authors of this report analysed the scopeof the topics which were felt to reflect sixmain categories:• Cell structure and division• Gene structure and mutation• Patterns of inheritance• Population genetics• Applications of genetics• Applied genetics andgenetic conditionsInternational BaccalaureateThe International BaccalaureateOrganization's website was consulted toobtain general information about the IBcourses and the Biology Guide for theDiploma Programme was acquired.This document was analysed for its geneticscontent, which was subsequently presentedin a table according to the teaching topic inwhich it is presented and whether it iscovered at standard or higher level.It was found that in many cases, the higherlevel genetics content covered the samesubject matter as the standard level course,but in a greater level of depth. More detail istherefore included under the higher levelgenetics descriptions to reflect the level ofdepth at which these topics are taught.For each of the genetics teaching topicsidentified, information was recorded in atable to show which syllabi cover the topicsand whether they are part of the AS or A2course. It was found that some of the syllabioffered optional modules in the A2 year, thetopics of these being chosen by the teacher.Where the genetics topics fell in one of theseoptional modules, the topic was marked ingreen and with an asterisk(*) in the table.This work is designed to provide an overview.However there may be some limitations tothe study because the information analysedcan only as complete as is available in theexamination boards' downloadable curricula.The topics that have been included in thedata tables are those which are explicitlyexpressed in these documents. Somecurricula could intend more detail than theystate, but this has not been documented inthis report as it is open to individualinterpretation.P13ONE

NHS National Genetics Education and Development Centre6. The genetics content ofA Level Biology coursesThe genetics content of the A level coursesanalysed has been ordered under six topics:• Cell structure and division• Gene structure and mutation• Patterns of inheritance• Population genetics• Applications of genetics• Applied genetics andgenetic conditionsEach of these will be considered in turn.Topics that are covered at AS level areindicated in yellow, topics that are covered atA2 level are marked in blue. Topics that arecovered in optional modules are indicated ingreen and marked with an asterisk (*).THE GENETICS CONTENT OF A LEVEL BIOLOGY COURSESP14

Genetics in A level GCE Biology and International Baccalaureate Biology CoursesCell structure and divisionThe basic structure of cells, the cell cycle and forms of cell division are covered by all A levelcourses in the first (AS) year. Issues surrounding variation and how it arises are, on the whole,not introduced until A2 level. This table suggests that some subjects, such as chromosomeabnormalities and sex determination either have patchy coverage between examinationboards or are not explicitly described in this way in the curricula documents.P15ONEAQA Biology Specification AAQA Human BiologySpecification AAQA Biology Specification BCCEA BiologyEdexcel BiologyEdexcel Biology (Human)Edexcel Biology(Salters-Nuffield)OCR BiologyOCR Human BiologyWJEC BiologyCell structure and divisionStructure of prokaryotic andeukaryotic cellsAS AS AS AS AS AS AS AS AS ASCell cycle AS AS AS AS AS AS AS AS AS ASStages of mitosis AS AS AS AS AS AS AS AS AS ASSignificance of mitosis AS AS AS AS AS AS AS AS AS ASMeiosis to produce haploid cells AS AS AS AS AS AS AS AS AS ASFertilisation as a source of variationA2Meiosis as a source of variation A2 A2 A2 A2 AS AS A2 A2 A2 A2Stages of meiosis A2 A2 A2 A2 AS AS AS A2 A2 ASRandom assortment, crossing over(chiasmata)Chromosome abnormalities(e.g. trisomy)A2 A2 A2 A2 AS AS A2 A2 A2 A2A2 A2 A2 A2Sex determination A2 A2 A2 A2

NHS National Genetics Education and Development CentreGene structure and mutationWithin the AS Biology courses, the concept of biological molecules is usually introduced earlyon, hence the coverage of nucleic acid structure at AS level across all of the examinationboards. The replication of DNA is covered by all boards at AS level, as are the underlyingprinciples of protein synthesis. The concept of mutation is introduced by all syllabi although itvaries whether this is at AS or A2 level. Some of the exam specifications mentioned particulartypes of mutation; these are indicated on the grid. Other specifications mentioned mutation inmore general terms. It may be that in practice, the teacher describes the types of mutation,however this is not made explicit on the syllabus.AQA Biology Specification AAQA Human BiologySpecification AAQA Biology Specification BCCEA BiologyEdexcel BiologyEdexcel Biology (Human)Edexcel Biology(Salters-Nuffield)OCR BiologyOCR Human BiologyWJEC BiologyGene structure and mutationStructure of nucleotides AS AS AS AS AS AS AS AS AS ASStructure of nucleic acids (basepairing and hydrogen bonding)Semi-conservative replicationof DNA (DNA polymerase)AS AS AS AS AS AS AS AS AS ASAS AS AS AS AS AS AS AS AS ASThe nature of the genetic code AS AS AS AS AS AS AS AS AS ASTranscription (mRNA) AS AS AS AS AS AS AS AS AS ASTranslation (ribosomes, tRNA,codons and anticodons)'One gene-one polypeptide'hypothesisAS AS AS AS AS AS AS AS AS ASAS AS AS AS ASControl of gene expression A2 A2 AS A2Gene mutation A2 A2 AS A2 A2 A2 AS A2 AS A2Addition A2 A2 AS A2 A2 ASSubstitution A2 A2 AS A2 A2 A2 ASDeletion A2 A2 AS A2 A2 A2 ASMutagens AS A2 A2 A2 AS A2Genetic causes of cancer AS AS AS ASCarcinogens AS AS A2Antibiotic resistance genesin bacteriaAccumulation of genetic errorin ageingA2* A2 ASA2*THE GENETICS CONTENT OF A LEVEL BIOLOGY COURSESP16

Genetics in A level GCE Biology and International Baccalaureate Biology CoursesPatterns of inheritanceThe curriculum content related to patterns of inheritance is almost entirely taught in thesecond (A2) year of the A level course. It can be expected that all students who havecompleted an A level Biology course will have covered basic genetic terminology and theprinciples of Mendelian inheritance. Approximately half of the courses will have taken thisfurther to introduce concepts of dihybrid crosses and co-dominance.P17ONEAQA Biology Specification AAQA Human BiologySpecification AAQA Biology Specification BCCEA BiologyEdexcel BiologyEdexcel Biology (Human)Edexcel Biology(Salters-Nuffield)OCR BiologyOCR Human BiologyWJEC BiologyPatterns of inheritanceAlleles as different forms of a gene A2 A2 AS A2 A2 A2 AS A2 A2 A2Genetic terminology: genotype,phenotype, recessive, dominant,homozygote, heterozygoteA2 A2 A2 A2 A2 A2 AS A2 A2 A2Monohybrid crosses A2 A2 A2 A2 A2 A2 AS A2 A2 A2Dihybrid crosses A2 A2 A2 A2 A2 A2 A2Co-dominance (monohybrid) A2 A2 A2 A2 A2 A2 A2Polygenic inheritance A2 A2 A2 A2 A2Sex linkage A2 A2 A2 A2 A2 A2ABO blood groups A2 A2 A2* A2Test crosses A2 A2Epistasis A2 A2

NHS National Genetics Education and Development CentrePopulation geneticsAll of the specifications include some aspect of population genetics, but almost all of it iscovered in the second (A2) year of the course. None of the topics are covered by all of the Alevel Biology syllabi; it is therefore difficult to make assumptions about what students mayalready know about these topics.AQA BiologySpecification AAQA Human BiologySpecification AAQA BiologySpecification BCCEA BiologyEdexcel BiologyEdexcel Biology(Human)Edexcel Biology(Salters-Nuffield)OCR BiologyOCR Human BiologyWJEC BiologyAQA BiologySpecification AAQA Human BiologySpecification AAQA BiologySpecification BCCEA BiologyEdexcel BiologyEdexcel Biology(Human)Edexcel Biology(Salters-Nuffield)OCR BiologyOCR Human BiologyWJEC BiologyPopulation geneticsContinuous anddiscontinuous variationGenes and environmentleading to variationA2 A2 A2 A2 A2 A2A2 A2 A2 AS A2The gene pool and allele frequencies A2 A2 A2 A2 A2 A2 A2 A2Hardy-Weinberg equation A2 A2 A2 A2Applications of geneticsThe coverage of topics illustrating the applications of genetics shows a great degree ofvariability, both in the specifics of the syllabus content and the part of the A level course inwhich it is covered. In general a student completing A level Biology should have someunderstanding of the applications of genetics. In the case of the OCR Biology course almost allof these applications are covered in an optional module.Applications of geneticsRecombinant DNA (restrictionendonuclease, DNA ligase, reversetranscriptase, antibiotic marker gene)AS AS AS AS A2 A2 A2* A2 ASPolymerase Chain Reaction (PCR) AS AS A2 A2Gel electrophoresis AS AS A2* A2 A2 AS A2* ASGenetically Modified Organisms(GMO)AS AS A2 A2 AS A2* A2 ASIssues around GMO AS AS A2 A2 AS A2* A2 ASHuman Genome Project AS AS AS A2 AS ASEthical issues surrounding the HGP AS AS AS AS ASCloning - advantages anddisadvantagesAS AS AS A2Gene therapy AS AS A2 AS A2* A2 ASVectors in gene therapy AS AS A2* ASTHE GENETICS CONTENT OF A LEVEL BIOLOGY COURSESP18

Genetics in A level GCE Biology and International Baccalaureate Biology CoursesApplied genetics and genetic conditionsThe applied and clinically related aspects of genetics are addressed to differing degrees bydiffering syllabi, from no coverage in the AQA Specification A documents to substantialcoverage by the OCR Human Biology Specification. We have listed the genetic conditionsspecifically mentioned by the A level courses were also listed, highlighting some of thediseases with which students may be familiar.AQA Biology Specification AAQA Human BiologySpecification AAQA Biology Specification BCCEA BiologyEdexcel BiologyEdexcel Biology (Human)Edexcel Biology(Salters-Nuffield)OCR BiologyOCR Human BiologyWJEC BiologyApplied genetics and genetic conditionsRisk of inherited disease (the role offamily history)Genetic screening in identification ofcarriers, prenatal testing and embryotestingA2A2A2* A2 AS A2* ASNeed for genetic testing A2 A2* A2Options available (treatment,termination of pregnancy)Social, moral, ethical and culturalissues related to genetic screeningA2A2 AS A2Issues surrounding IVF A2* A2ThalassaemiaAlbinismA2A2Huntington disease A2* A2Sickle cell anaemia A2 AS A2HaemophiliaA2Cystic fibrosis AS AS A2* A2 ASDown syndrome A2 A2 A2 A2* A2 A2Turner syndromeKlinefelter syndromeASASThis section has highlighted the commonalities and differences between the UK examinationboards' coverage of genetics in A level Biology. The next section of this report will examinethe genetics content of International Baccalaureate Biology courses.P19

NHS National Genetics Education and Development Centre7. The genetics content of theInternational Baccalaureate Biology CourseGenetics in the Core and AdditionalHigher Level (AHL) modules:The Core component of the IB Biology courseconsists of six topics:1. Statistical analysis2. Cells3. The chemistry of life4. Genetics5. Ecology and evolution6. Human health and physiologyThe concepts introduced here are extended inmore detail for the Higher Level students bythe five Additional Higher Level modules:7. Nucleic acids and proteins8. Cell respiration and photosynthesis9. Plant science10. Genetics11. Human health and physiologyThe genetics components of the course arepresented in the subsequent tables:THE GENETICS CONTENT OF THE INTERNATIONAL BACCALAUREATE BIOLOGY COURSEP20

Genetics in A level GCE Biology and International Baccalaureate Biology CoursesTopic 2: Cells (Standard level) and Topic 7:Nucleic acids and proteins (AHL):STANDARD LEVEL(Completed by all students)ADDITIONAL HIGHER LEVEL(Completed by all higher level students)Cell structure and division• Structure of prokaryotic and eukaryotic cells• Cell cycle• DNA replication and protein synthesis ininterphase• Stages of mitosis• Role of mitosis• Tumours as the result of uncontrolledcell divisionStem cells• Stem cells• Cloning - advantages and disadvantages• Ethical issues in cloningStructure and replication of DNA• Structure of nucleotides in DNA• Base pairing and hydrogen bonding• Semi-conservative replication of DNA(including the roles of DNA polymerase& helicase)Protein synthesis• Transcription(including the role of RNA polymerase)• Translation• Structure of DNA (antiparallel, 3'-5' linkages,hydrogen bonding between purines andpyrimidines• DNA replication (5'-3' direction, roles ofhelicase, DNA polymerase, RNA primase,DNA ligase, Okazaki fragments anddeoxynucleoside triphosphates• Structure of nucleosomes• Satellite DNA• Exons and introns in eukaryotic genes• Transcription (5'-3' direction)• Sense and antisense strands of DNA• Transcription in prokaryotes (including therole of the promoter, RNA polymerase,nucleoside triphosphates and the terminator)• Removal of introns in eukaryotic RNA• Ribosome structure, subunits and RNAbinding sites• Role of free ribosomes and bound ribosomes• Translation (5'-3' direction)• Translation: initiation, elongation,translocation and termination• Translation: the binding of an amino acid totRNA by tRNA-activating enzymes• Structure of a peptide bond betweenamino acidsThe genetic code• The nature of the genetic code• One gene-one polypeptide hypothesisP21

NHS National Genetics Education and Development CentreTopic 4:Genetics (Standard level) and Topics 10: Genetics (AHL):STANDARD LEVEL(Completed by all students)ADDITIONAL HIGHER LEVEL(Completed by all higher level students)Genes and mutation• Genetics terminology (including gene,allele, genome and gene mutation)• Substitution mutation• Sickle-cell anaemiaChromosomes and meiosis• Chromosome structure• Meiosis to produce haploid cells• The stages of meiosis and crossing overChromosome abnormalities• Non-disjunction• Down syndrome• Karyotyping• Pre-natal diagnosis(chorionic villus sampling and amniocentesis)• Autosomes and sex chromosomes• The behaviour of chromosomes in meiosis• The formation of chiasmata in crossing over• Crossing over and exchange of alleles• Meiosis as a source of variation• Mendel's law of independent assortmentInheritance patterns• Definitions (genotype, phenotype, dominantallele, recessive allele, codominant alleles,locus, homozygous, heterozygous, carrier andtest cross)• Monohybrid cross (Punnett grid)• Multiple alleles• ABO blood group system• Inheritance of sex• Sex linkage• Colour blindness• Haemophilia• Interpreting pedigrees• Dihybrid crosses• Dihybrid crosses involving linked genes• Polygenic inheritance• Continuous variationApplications of genetics:• Polymerase Chain Reaction (PCR)• Gel electrophoresis• DNA profiling• Paternity testing• Forensic applications• The Human Genome Project• The nature of the genetic codeGenetic modification:• Gene transfer (including plasmids, the hostcell, restriction enzymes and DNA ligase)• Genetically Modified Organisms (GMO)• Ethical issues surrounding GMO• Cloning• Ethical issues surrounding cloningTHE GENETICS CONTENT OF THE INTERNATIONAL BACCALAUREATE BIOLOGY COURSEP22

Genetics in A level GCE Biology and International Baccalaureate Biology CoursesGenetics in the Optional modules:There are number of optional modulesavailable for IB students. Those offered atstandard level only are:A. Human nutrition and healthB. Physiology of exerciseC. Cells and energyThose offered at standard level with a higherlevel extension are:D. EvolutionE. Neurobiology and behaviourF. Microbes and biotechnologyG. Ecology and conservationOne module is offered at higher level only:H. Further human physiologyGenetics topics exist in options A, D and F:Option A:Human nutrition and health (Standard level only)STANDARD LEVEL(Completed by all studentsenrolled on this module)• The causes and consequencesof phenylketonuria• The need for early diagnosis and aspecial dietOption D:Evolution (Standard and Higher levels)STANDARD LEVEL(Completed by all studentsenrolled on this module)• The properties of RNA• Allele frequency and the gene pool• Sickle-cell anaemiaADDITIONAL HIGHER LEVEL(Completed by all higher levelstudents enrolled on this module)• Universality of DNA• Hardy-Weinberg principleOption F:Microbes and biotechnology (Standard level only)STANDARD LEVEL(Completed by all studentsenrolled on this module)• Nucleic acids within viruses• Uses of reverse transcriptase• Somatic and germ-line therapy• Vectors in gene therapy• Risks of gene therapyIn the next section of this report, the ways in which the Biology curricula are assessed will bediscussed.P23

NHS National Genetics Education and Development Centre8. AssessmentAssessment of A level Biology:The methods used by examination boards inthe assessment of AS and AS Biology aresummarised in the table below. All of theboards rely upon end of module examinationsand coursework for the assessment of the ASlevel courses, with two examination boards,OCR and WJEC including a practicalexamination or timed assessment. All of theA2 courses include end of moduleassessments and assessment of practical work(either coursework, examination or timedassessment). The A2 course also includessynoptic (combined) examinations designedto assess the underlying core biologicalconcepts learned over the span of the twoyears. Some examination boards set aseparate synoptic paper, others integratedsynoptic questions into their A2 end ofmodule tests.End of module examinationSeparate synopticexaminationSynoptic questions as part ofan end of moduleCentre (School) assessedcourseworkPractical examination /assessmentAQA A level GCE BiologySpecification AAQA A level GCE Human BiologySpecification AAQA A level GCE BiologySpecification BCCEA A level GCE BiologyEdexcel A level GCE BiologyEdexcel A level GCE Biology(Human)Edexcel A level GCE Biology(Salters-Nuffield)OCR A level GCE BiologyOCR A level GCE Human BiologyWJEC A level GCE BiologyASA2ASA2ASA2ASA2ASA2ASA2ASA2ASA2ASA2ASA2Specimen papers for these examinations can be accessed from the examination boards'websites. Further details are provided in Section 11.ASSESSMENTP24

Genetics in A level GCE Biology and International Baccalaureate Biology CoursesAssessment of International Baccalaureate Biology:The assessment of the International Baccalaureate Biology Programme is outlined below(modified from International Baccalaureate Organization, 2007):STANDARD LEVEL ASSESSMENTHIGHER LEVEL ASSESSMENTPaper 1 30 multiple-choice questions on the core 40 multiple-choice questions (±15 commonto Standard Level plus about five more onthe core and about twenty more onthe Additional Higher Level)Paper 2 Section A: one data-based question and Section A: one data-based question andseveral short-answer questions on the several shore-answer questions on thecore (all compulsory)core and the Additional higher Level(all compulsory)Section B: one extended-responsequestion on the core(from a choice of three)Section B: two extended-responsequestions on the core and the AdditionalHigher Level (from a choice of four)Paper 3 Several short-answer questions in each Several short-answer questions an doneof the two options studied (all compulsory) extended-response question in each of thetwo options studied (all compulsory)P25

NHS National Genetics Education and Development Centre9. Summary of findingsA level Biology CoursesApproximately a quarter (26%) of the genetics topics identified in this study are covered by allof the different examination boards' A level Biology specifications.All students who have completed AS level Biology will have covered the following topics:• The structure of prokaryotic and eukaryotic cells• The cell cycle• The stages of mitosis• The significance of mitosis• The role of meiosis in producing haploid cells• The structure of nucleotides• The structure of nucleic acids (including base pairing and hydrogen bonding)• The semi-conservative replication of DNA (including the role of DNA polymerase)• The nature of the genetic code• Transcription• TranslationThose students who have gone on to take Biology at A2 level, regardless of examinationboard, will also have covered:• The stages of meiosis• Meiosis as a source of variation• The random assortment of chromosomes and crossing over• Gene mutation• Alleles as different forms of a gene• Genetics terminology including genotype, phenotype, recessive,dominant, homozygote, heterozygote• Monohybrid crossesInternational Baccalaureate Biology CoursesAll students who have completed Biology as their group 4 experimental science option atInternational Baccalaureate will have covered the following topics:• The structure of prokaryotic and eukaryotic cells• The cell cycle• DNA replication and protein synthesis in interphase• Stages of mitosis• Role of mitosis• Tumours as the result of uncontrolled cell division• Stem cells• Structure of nucleotides in DNA• Base pairing and hydrogen bonding• Semi-conservative replication of DNA• Transcription• Translation• One-gene-one polypeptide hypothesis• Genetics terminology (including gene, allele, genome and gene mutation)• Substitution mutationSUMMERY OF FINDINGSP26

Genetics in A level GCE Biology and International Baccalaureate Biology Courses• Sickle-cell anaemia• Chromosome structure• Meiosis to produce haploid cells• The stages of meiosis and crossing over• Non-disjunction• Down syndrome• Karyotyping• Pre-natal diagnosis (chorionic villus sampling and amniocentesis)• Definitions (genotype, phenotype, dominant allele, recessive allele, codominant alleles, locus,homozygous, heterozygous, carrier and test cross)• Monohybrid cross (Punnett grid)• Multiple alleles• ABO blood group system• Inheritance of sex• Sex linkage• Colour blindness• Haemophilia• Interpreting pedigrees• Polymerase chain reaction (PCR)• Gel electrophoresis• DNA profiling• Paternity testing• Forensic applications• The Human Genome Project• The nature of the genetic code• Gene transfer (including plasmids, the host cell, restriction enzymes and DNA ligase)• Genetically modified organisms (GMO)• Ethical issues surrounding GMO• Cloning• Ethical issues surrounding cloningA level Biology and International Baccalaureate findings combinedStudents who have taken AS, A level or International Baccalaureate Biology, regardless of examination board,will have covered the following genetics topics:• The structure of prokaryotic and eukaryotic cells• The cell cycle• The stages of mitosis• The significance / role of mitosis• The role of meiosis in producing haploid cells• The structure of nucleotides• The structure of nucleic acids (including base pairing and hydrogen bonding)• The semi-conservative replication of DNA(including the role of DNA polymerase)• The nature of the genetic code• Transcription• TranslationP27

NHS National Genetics Education and Development Centre10. Applying the findings to pre-registrationhealth professional genetics teachingThe findings from this report have identifiedthe topics in genetics that will have beencovered by pre-registration healthprofessional students if they have completedA level or International Baccalaureate Biologycourses. Many students may therefore havepreviously learned aspects of cell biology,molecular biology, patterns of inheritance andapplications of genetics in their pre-universitystudies.As many health professional courses do notspecify A level Biology as a pre-requisitecourse, educators will face the challenge ofteaching students with varied levels ofunderstanding, from little or no knowledge ofgenetics through to a reasonableunderstanding of the underlying concepts.Should the educator move too quicklythrough the genetics material, they may losethe less knowledgeable students; move tooslowly and they may not challenge the moreknowledgeable.The use of clinical scenarios in teachinggenetics to health professional students mayassist genetics educators in deliveringconcepts. Using a patient story to connectthe relevant aspects of cell biology, molecularbiology, inheritance patterns and applicationsof genetics (such as genetic testing), thestudents who have not previously completedadvanced level Biology courses will beintroduced to the concepts that they willrequire in their future profession. For thestudents who have completed advanced levelBiology courses, they will revisit topics towhich they have previously been introduced,but from a new, clinically relevant andpractically focused perspective.A number of patient stories that could beused for teaching pre-registration healthprofessional students are available from the'Telling Stories - Understanding Real LifeGenetics' website(www.geneticseducation.nhs.uk/tellingstories)The stories can be searched, are available in anumber of formats and are supported byteaching and learning resources such asactivities, points for reflection and sources offurther information. In addition, case historieswith questions and answers coveringconcepts such as Mendelian inheritance andchromosome anomalies are available in the'teaching genetics' section of the website.APPLYING THE FINDINGS TO PRE-REGISTRATION HEALTH PROFESSIONAL GENETICS TEACHINGP28

Genetics in A level GCE Biology and International Baccalaureate Biology Courses11. Sources of further informationExamination boardsExamination board websites make curriculaspecification documents freely available in pdfformat. The International Baccalaureate Organisationcharges a fee. Many examination boards provideresources and courses for teachers as well asspecimen examination papers and marking schemes.• The Assessment and Qualifications Alliance(AQA) (http://www.aqa.org.uk/)• Council for the Curriculum Examinationsand Assessment (CCEA)(http://www.rewardinglearning.org.uk/)• Edexcel(http://www.edexcel.org.uk/home/)• Oxford Cambridge and RSA Examinations(OCR) (http://www.ocr.org.uk/index.html)• Welsh Joint Education Committee (WJEC)(http://www.wjec.co.uk/)• International Baccalaureate Organization (IBO)(http://www.ibo.org/diploma/)P29

NHS National Genetics Education and Development Centre12. Resources to support advancedlevel Biology topicsBooksThere are a large number of A level Biologytextbooks available. Some covering a widerange of topics, others are specific to anexamination board and some are specific to aparticular module within an examinationboard's specification. The following list wasgenerated using a popular commercialwebsite specialising in book sales and is byno means exhaustive.Generic A level Biology textbooksThis short list provides a snapshot of the largenumber of A level Biology texts available:• Kent, M. (2000). Advanced Biology.Oxford University Press.ISBN: 0199141959• Toole, G. & Toole, S. (1999). NewUnderstanding Biology for AdvancedLevel (4th edition). Nelson Thornes.ISBN: 0748739572.• Roberts, M., Reiss, M. & Monger, G.(2000). Advanced Biology.Nelson Thornes. ISBN: 0174387326.• Williams, G. (2000). Advanced Biologyfor You. Nelson Thornes.ISBN: 0748752986.Syllabus specific A level Biology textbooksAQA Biology Specification A:• Indge, B., Baker, M. & Rowland, M.(2000). A New Introduction to HumanBiology. Hodder Murray.ISBN: 0340781661.• Baker, M., Indge, B. & Rowland, M.2001). Further Studies in Human Biology.Hodder Murray. ISBN: 0340802456.AQA Biology Specification B:• Lea, C., Lowrie, P. & McGuigan, S. (2000).AS Level Biology for AQA Specification B.Heinemann Educational Publishers.ISBN: 0435580833.• Lea, C., McGuigan, S., Pauline,A. & Lowrie, P. (2001). Advanced LevelBiology A2: For AQA Specification B.Heinemann Educational Publishers.ISBN: 0435580817.AQA Human Biology Specification A:• Indge, B., Rowland, M. & Baker, M.(2000). A New Introduction to HumanBiology. Hodder Murray.ISBN: 0340781661.• Baker, M., Indge, B. & Rowland, M.(2001). Further Studies in Human Biology.Hodder & Stoughton Ltd.ISBN: 0340802456.CCEA BiologyNo specifically tailored textbooks to supportthe CCEA specification were found during thesearch.Edexcel Biology and Human Biology:Books are available from Philip Allanpublishers to support each of the individualmodules that make up these courses.Edexcel Biology (Salters-Nuffield)• Salters-Nuffield (2005). Salters-NuffieldAdvanced Biology AS: Student Book.Heinemann Educational Publishers.ISBN: 0435628577.• Salters-Nuffield (2005). Salters-NuffieldAdvanced Biology A2: Student Book.Heinemann Educational Publishers.ISBN: 0435628585.OCR Biology and Human Biology:A range of books are available from a numberof publishers to support the OCRspecifications.WJEC Biology:No specifically tailored textbooks to supportthe WJEC Biology specification were foundduring the search.International BaccalaureateBiology textbooksCourse companions for the BiologyInternational Baccalaureate course areavailable from Oxford University Press.RESOURCES TO SUPPORT ADVANCED LEVEL BIOLOGY TOPICSP30

Genetics in A level GCE Biology and International Baccalaureate Biology Courses13. References• Bell, J.F., Malacova, E. & Shannon, M.(2005). The changing pattern of Alevel/AS uptake in England. TheCurriculum Journal. 16(3): 391-400.• Burton, H. (2003). Addressing GeneticsDelivering Health. Cambridge: PublicHealth Genetics Unit.• Centre for Education and Industry (2003).A Level Biology, higher Education andresearch in the Biological Sciences.Downloaded fromhttp://www.wellcome.ac.uk/assets/wtd003436.pdf(October 2006).• International Baccalaureate Organization(2007). Diploma Programme BiologyGuide. United Kingdom: InternationalBaccalaureate Organization.• International Baccalaureate Organization(2008). Country Information for UnitedKingdom [electronic resource].http://www.ibo.org/country/GB/index.cfm[Accessed 14th February 2008].• International Human Genome SequencingConsortium (2001). Initial sequencing andanalysis of the human genome.Nature. 409 (6822): 860-921.• Department of Health (2003). OurInheritance, Our Future. Norwich: HMSO.• Department for Education and Skills(2008). Success rates of GCE A levelexamination results of students by agegroup in selected subjects in all schoolsand colleges by the end of 2001/2002[electronic resource].http://www.dfes.gov.uk/rsgateway/DB/SFR/s000387/tab003.shtml[Accessed 14th February 2008].• Hayden, M.C. & Wong, C.S.D. (1997).The International Baccalaureate:international education and culturalpreservation. Educational Studies.23(3): 349-361.• International Baccalaureate Organization(2002a). A Basis for Practice: the DiplomaProgramme. Downloaded fromhttp://www.ibo.org/diploma/documents/basis_diploma.pdf(August 2007).• International Baccalaureate Organization(2002b). Schools' Guide to the DiplomaProgramme. Downloaded fromhttp://www.ibo.org/diploma/documents/schools_guide_diploma.pdf(August 2007).P31

Supporting genetics education for healthwww.geneticseducation.nhs.uk