11.ethical concerns for whole genome and whole exome sequencing studies

8/13/2019 11.Ethical Concerns for Whole Genome and Whole Exome Sequencing Studies

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Ethical concerns for whole genomeand whole exome sequencingstudies

Informed consentGenomic studies involving human research subjects typically requireethical clearance from relevant institutional review boards (IRBs) orresearch ethics committees (R!s) before commencing."his processinvolves members of the IRBs#R!s determining whether the researchprotocol will gather sufficient informed consent from study participantsto ensure that these individuals are able to ma$e informed decisionsregarding potential ris$s and benefits of voluntary participation%&'."he consent procedure should be an ongoing process whichinvolves more than only an initial informed consent document*researchers should engage prospective study participants in frequentdiscussions about their research as well as give them adequate timeto decide whether they wish to participate in the proposed researchensuring that participants realise that participation is voluntary.Incertain settings consultations with the community may also beappropriate (see the section +!hallenges and opportunities in the,frican context- below)..I/funded research involving human subjects is guided by the 012epartment of /ealth and /uman 1ervices 3olicy for the 3rotection of/uman Research 1ubjects !ode of 4ederal Regulations 56 !4R 3art 57%89'.:f relevance to research in ,frica is the fact that the informedconsent process of projects funded by the /;,frica Initiative will berequired to comply with the socalled +!ommon Rule- (i.e< subpart , of56 !4R 3art 57) %88'< 3ublished in 8&&8 a large part of theseregulations were derived from concepts from the Belmont Report%8=8;' a report that places emphasis on* (i) respect for persons (ii)beneficence and (iii) justice."he +!ommon Rule- is the basic policy forthe protection of human research subjects for federally fundedresearch in the 01,."he policy covers aspects such as generalrequirements for informed consent and criteria for IRB membership

and oversight."he informed consent document should contain a variety of differentelements presented in a concise manner to ensure that participantscan easily comprehend the text.lements normally included are abrief description of the project the goals of the research the potentialris$s and benefits of participation return of results options forwithdrawal from research and data sharing plans.It is imperative forthe informed document to be written in accessible language to
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promote research participant autonomy and awareness of potentialbenefits or harms of participation.

Data sharing:ne of the $ey aspects of genomic research which is frequentlyadopted by these studies (including those studies involving >G1) is

the concept of data sharing through databases to allow for thesecondary use of data.1uch data sharing has been employed in thefield of human genomics since the advent of genome wide associationstudies (G>,1) %85'.Increasing data access has allowed genomicdatasets to be thoroughly analysed and has afforded research groupswithout datagenerating capacity the opportunity to interrogategenomic data."he related benefits to society of these data sharing practices have ledcertain public funding agencies as well as journals to requireresearchers to deposit genomic data and correlated deidentifiedphenotypic information into public databases.4or example the

federallyfunded .I/ expects research resources generated by .I/projects to be shared with the scientific community unless there areadequate reasons that would justify that exemption (e.g< data sharingnot covered in the original consent documents institutional policiesetc.) %86'< xamples of such databases include the 2atabase ofGenotypes and 3henotypes (dbGa3) and the uropean Genomephenome ,rchive (G,)."hese databases were originally operatedunder open access models? this practice however is no longerendorsed by the .I/ and >ellcome "rust since a study by /omer et al.%87' displayed that certain genotypic information ma$es it is possibleto determine whether a particular individual participated in a G>,1

%8@'.!urrently these databases are typically operated underrestricted#controlled access and data access committees oversee thedissemination of such data.,s illustrated by /omer et al< %87' despite the +practical obscurity- ofgenomic data privacy and issues pertaining to identifiability areinherent concerns when genomic data sharing ispracticed.,dditionally privacy ris$s are not exclusive to the genomicresearch participants themselves but extend to their familiestoo.,lthough personal identifiers are removed from genotypephenotype data in public databases the ris$ of the inference ofindividuals by data intruders still exists due to richness of such data

and increasing numbers of different types of public databases %8@=8'."herefore dbGa3 and G, require users requesting to gain accessto individual genotypephenotype information to sign agreements thatstate that data will not be used to attempt to identify participants andthat data confidentiality will be maintained."hese are data usecertification %==' and data access agreements %=;' respectively.It ishowever impossible to guarantee absolute confidentiality to researchparticipants in genomic studies and it is important that such a caveat
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is included in the informed consent document.4inally once the datahave been deposited in these databases withdrawal from research Aan option frequently found in informed consent documents A becomeschallenging %='.4or these reasons the sensitive nature of genomic data with regards to

identifiability and privacy as well as stigmatisation and discriminationthat could result from data breaches are major concerns in thesestudies while the physical harms of participating in such research areusually minimal (e.g.the pain experienced due to blood draw)* unli$etraditional clinical research the major harms of genomic research arenot physical but psychosocial in nature %&'."hese ris$s of data sharingneed to be carefully measured against the potential loss of medicaladvancement to society through withholding the data.

Participant identifiability"he deluge of data that are generated in >G1 studies differdramatically from 2., microarraybased G>,1 since theoretically all

the genetic variants that change protein sequences in an individual arecatalogued heightening the ethical and legal concerns encountered intraditional genetic studies."he extensive nature of these >G1 dataas well as lin$s to corresponding phenotypic and familial dataincreases the li$elihood of identifiability of research participants andcomplicates the informed consent process %=5=6'."hese concernsprovide challenges for IRBs#R!s as well as investigators wanting toconduct >G1 studies since due to the emerging nature of >G1technologies empirical evidence and policies regarding these conceptsare lac$ing.2ue to these concerns the contents of the informed consent document

come under increased scrutiny in >G1 studies."his is of particularrelevance to samples that were collected before .G1 era of medicalgenomic research and IRBs#R!s could conclude that participantsneed to reconsent to the >G1 part of the study.,lthough the goalsof traditional genetic and genomic studies do not differ greatly from>G1 studies there is still some debate whether research participantsneed to be specifically informed about the use of >G1 in a study andif so how extensive and in what language the description of the >G1approach should be in the consent document %5=7'.3racticinggenomic data sharing is also another potential issue here if theindividuals were not advised about this concept in the original

informed consent documents %=@'.4urther >G1 approaches are farmore prone to uncover secondary or incidental research findings (i.eG1 research %5'.In this regard it is important to draw a distinctionbetween G>,1 and >G1 studies.G>,1associated loci for mostdiseases are often associated with smalltomoderate ris$ (:dds Ratiosof 8.;8G1 studies."he aspects discussed above need to be considered when designingqualified results disclosure programs %;&' and should be incorporated
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into future research studies attempting to generate empirical evidenceon return of secondary#incidental findings.Initiatives such as Cy57%57' which aims to gather participants- opinions and preferences forthe return of >G1 research results should aid in betterunderstanding the intricacies of this concept better.1ets of guidelines

and policy statements produced by wor$groups from organisationssuch as the ,merican !ollege of Cedical Genetics and Genomics %5@'with regards to the application of .G1 technologies in clinical settings(including secondary#incidental findings) could also provide usefulinformation for research environments.,dditionally a preliminarystudy of specialists- opinions for the management of >G1secondary#incidental findings A ordered for clinical purposes A cited 75genetic conditions or genes that have strong evidence for return topatients %5'.,s such lists emerge they could help guide researchstudies.In the interim it is important for researchers to wor$intimately with their respective IRBs#R!s during processes such as

the review of >G1 research protocols.!hallenges and opportunities in the ,frican contextCultural and genetic diversity in AfricaIt is essential to perform >G1 studies in ,frica to ensure that thebenefits of genomic medicine are also eventually realised in thesepopulations.!onducting research in the culturally as well asgenetically diverse populations of ,frica however requires uniqueconsiderations to ensure that this research is performed in a mannerthat is respectful to cultural differences? and community engagementcan be helpful in certain situations.3revious largescale genomicsprojects involving indigenous ,frican populations such as the /apCap3roject %;8' aimed to document unforeseen issues and ensure thatculturally sensitive research was achieved through consultation withcommunity advisory groups %5&69'.4or example certain tissues andmaterials may have unique cultural significance in specific ,fricanpopulations and researchers need to be aware of such facts whencollecting samples for genomic research %686='.It is important for advisory groups to be representative of the socioeconomic ma$eup of the actual communities %6;' yet guidelines forconducting community engagement are notably lac$ing %65'."heselection of the appropriate members for such advisory groups istherefore a major concern %6;66' and can lead to what has referredto as +pseudocommunity engagement- %6;'.2espite the fact thatappropriate community engagement can be a complex timeconsuming process it aids in establishing strong collaborationsbetween researchers and research participants %67'."his is in contrastto socalled +parachute research- %6@' which does not promotesustainable research conditions and creates feelings of distrust ofresearch amongst the respective communities.If performed correctly
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community engagement helps address group concerns increases thecommunity-s understanding of the respective research aids inpreventing exploitation enhance recruitment of research participantsand helps maintain openness and transparency between researchersand potential study participants.1uch processes can also be used to

determine how the respective populations would li$e to be named anddescribed in subsequent research.1tudies are required with regards to opinions of ris$s associated withidentifiability caused by genomic research in the ,frican context."heris$s associated with identifiability associated with participating ingenomic research will be of increased concern when diseases#disordersthat have stigma associated with them in ,frica are studied(e.g.mental health %6' and /IF#,ids %6&').,dditionally in ,fricaindividuals frequently define themselves with regards to a communityrather than as a lone individual %79'."herefore these differences to>estern thought need to ac$nowledged and the potential for group

harm resulting from inclusion of certain ethnic groups needs toconsidered.,s mentioned above the results of genetic#genomic researchincluding >G1 studies may result in concerns about discriminationand stigmatisation due to research findings %787='.In the 01Goldenberg et al< %7;' found that the potential for genetic research tocause group stigmatisation could influence whether individuals decideto participate in the study a concern especially apparent amongst,frican,merican respondents.2e Fries et al< %75' noted that thisgenomicsrelated concern could be relevant for ethnic groups in ,fricafor which stigmatisation and discrimination is already present."he

unfortunately long list of past and ongoing ethnic conflict and violencein many ,frican countries suggests that this is a real concern.In otherwords genomics findings could be used as one more piece inhighlighting perceived differences between ethnic groups that are usedto promote such conflicts.:n the other hand it should be noted thatother distinguishing characteristics (e.g.in s$in colour height orlifestyle) are already being so misused."herefore it is uncertain ifgenomics findings would exacerbate such issues than what currentlyexists or if in fact the genomic similarities between ethnic groups willlead to a greater appreciation of the shared humanity of all peoplesirrespective of their ethnicity or outward appearance.,n additional

concern is that when the findings of population genomic studies do notcorrespond with cultural beliefs#social narratives this may also causegroup harm and#or create mistrust in the utility of genomics in suchsocieties."he filing of patents and the potential commercialisation ofresearch findings is an additional issue for genomic research indeveloping countries %6;' and raises the concepts of benefit sharingand genomic sovereignty %76'.Researchers need to be prepared forthis possibility when conceptualising their research.
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Availability of resources in Africa!onducting genomic research in resourcelimited settings such asthose in ,frica offers a unique set of challenges.!omprehensionbarriers to the informed consent process may be present due to thelimited income and literacy levels of participants as well as language

differences that may be encountered %65'.4or example this isillustrated by the fact that ;9.6 of the world-s living languages havean ,frican origin yet these diverse languages are spo$en by only8=.= of global population %77'."hese concerns are further amplifiedin >G1 studies due to the complex nature of such technologiesemployed %5' and the required role of IRBs#R!s* unfortunately manyboard members may not be adequately trained to handle genomicsrelated research %;7;@'.>ith increasing >G1 in ,frica over the nextfive years the already limited number of local IRBs#R!s will be placedunder an increased burden with limited training and funding for thesecommittees on the continent %7@7&'.2ue to the collaborative nature

of >G1 ethical clearance will frequently be required from multipleIRBs#R!s further complicating matters.IRBs#R!s also need to determine protocols for >G1relatedsecondary#incidental findings in the ,frican context.Hocalcircumstances need to be considered such as the feasibility of recontacting participants (for return of results or reconsent) in certainstudies as well as in resourcelimited settings.ven if it may not befinancially viable to underta$e a timeconsuming search forsecondary#incidental variants %5=' researchers may have an ethicalobligation to return such variants if encountered during the primaryresearch process %;5'."his situation however is also set to change as

the process of genome analysis to identify relevant variants becomesincreasingly refined and automated.,nother aspect that needs to beconsidered is that we do not currently $now the penetrance range ofdifferent variants that are classified as diseasecausing which isespecially relevant for ,frican situations where understudied andunique genetic and environmental bac$grounds are present %56'.qually important is the verification step that is required before thedisclosure of secondary#incidental findings to researchparticipants.!urrent recommendations in the 01 require verificationthrough laboratories conforming to the 4ederal Government-s !linicalHaboratory Improvement ,mendments (!HI,)? and researchers wor$ing

in ,frica will have to determine whether local recommendations canensure accurate validation of findings.4or example in 1outh ,fricathe 1outh ,frican .ational ,ccreditation 1ystem %@9' is responsible forInternational :rganiDation for 1tandardiDation (I1:) accreditation ofclinical laboratories in the country (e.g.I1: 868& and I1: 8@9=6)here resources are limited it may prove necessary to performvalidation in foreign laboratories that comply with !HI, or equivalentprotocols.
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:nce the relevant variants have been confirmed via verificationqualified genetic counsellors should return these results at anappropriate level for full participant understanding."he limitednumbers of genetic counsellors in ,frica may hamper this process.,recent review noted that only =7 genetic counsellors were listed on the

relevant mailing list for the 1outhern ,frican 1ociety for /umanGenetics %@8@=' and even in developed countries the number ofgenetic counsellors is limited (e.g< in the 01 there is approximately onecounsellor to 8;6 999 individuals) %55'.In the context of resource poor countries (li$e many in sub1aharan,frica) the issue of what is +actionable- becomes much more complexthan in >estern nations.,ssuming availability of >G1 findings thereis limited capacity to provide genetic counselling trace and contactfamily members institute preventive measures (when applicable) andfollow up patients and their families."herefore the lac$ of resourcesand the generally poor health care systems may limit (and thereby

define) what is actionable in >G1 findings.,utonomy may also behampered in such situations where it would be difficult to conveycomplex concepts such as actionable findings to research subjectswhen genomic literacy is limited."here is a lac$ of empirical evidenceon the attitudes towards the return of secondary#incidental inindigenous ,frican populations which should be addressed in futurestudies.merging evidence from studies of ,frican ,merican attitudestowards >G1 suggest that these individuals are less li$ely to want toreceive genetic results %@;'.Himitations to addressing such ethical considerations for >G1 in,frica thus include poor literacy and communication resources for the

informed consent process? poor financial resources for secondaryanalysis limited resources for appropriate validation and return ofsecondary data to participants and limited capacity for healthinterventions based on secondary findings.Investing in ,frica byproviding funding for ethics processes within >G1 research howeverwill aid in capacity building on the continent and address some ofthese limitations.

Implications for informed consent and data sharingprocesses in Africa

2iverse populations such as those found in ,frica require uniqueconsiderations for the informed consent process to acquire valid

consent %69'.>e wished to understand how informed consent with,frican participants was underta$en for previously published ,fricangenome studies and requested access to templates of informedconsent documentation from a number of different genomic studiesinvolving indigenous ,frican populations in order to analyse $eyconcepts that were covered in these documents.In general theinformed consent form templates used for the genomic studies in,frica are not available to external researchers except for those used
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by largescale projects of human genetic variation (i.e< the /apCap3roject %;8' and the 8999 Genomes 3roject %@5') as well as the CalariaGenomic pidemiology .etwor$ (CalariaG.) %@6'.,ttempts ataccessing informed consent documentation from the correspondingauthors of studies where these templates were not publically available

proved generally unsuccessful."his may have been due to institutionalpolicies (e.g< template consent form documentation could perhaps beconsidered proprietary information).Informed consent processes for genomic research in ,fricanpopulations have previously been brought under scrutiny %@7'highlighting the need to carefully consider these processes and ensurethat the forms cover the required concepts and are written in anaccessible language.4urthermore the processes and documentationfor informed consent should be available to all interested parties inthe interests of transparency."he potential linguistic barriers in ,fricawere mentioned previously %@@' but these may be more easily

overcome if scientific jargon is avoided while using language familiar tothe participants %6;'.Hocal vernacular terms that have potentialderogatory connotations to participants should be avoided distinctionsbetween clinical care and research should be articulated and it shouldbe emphasised that research participation is voluntary %@'.>herepossible local field wor$ers should understand the study adequately inorder to perform recruitment and should engage in feedbac$ to othermembers of the research team %@&'.fficient methods to convey complicated concepts during the informedprocess are required to minimiDe inconvenience for researchparticipants.3ersons entrusted to gather informed consent should

verbally go through the documentation in the home language of theresearch participants who should also be given sufficient time toconsider whether they wish to participate in the study.,udio or videorecorded verbal consent could be used in certain situations whereresearch participants are illiterate %9'.>ith regards to data sharing policies that were established for theCalariaG. which conducted genomic research in numerous sub1aharan ,frican countries may serve as a primer for future >G1studies in ,frica especially those involving large consortia%8'.,cceptable uses of data and data sharing for different parts ofCalariG. are determined by an independent data access committee

in consultation with local IRBs#R!s while considering the respectiveconsent that was obtained %='.4inally the networ$ has adopted anoteworthy approach to intellectual property issues where potentialroyalties will go to participating communities and not the investigatorswhere possible %@6'.,ll ethics documentation including the informedconsent templates are available to the public.In the subsequent section relevant 1outh ,frican legislation for >G1studies will be discussed in relation to 0 and 01 laws using this case
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study to gain a better understanding of potential legal issues in ,fricancountries.1outh ,frica has been chosen not only for its relativeconvenience (being $nown by the authors) but also due to the factthat it often serves as a legislative blueprint for other (especially,nglophone) ,frican countries and is therefore a pertinent point of

departure for further research and comparative analysis within thegreater ,frican continent.

Hegal issues around privacy informed consent anddata sharing

4rom a legal point of view the two most important subject rights withregard to medical research are the right to bodily integrity and theright to privacy."he former right pertains to the methods used inacquiring samples for research and legislation such as the .ational/ealth ,ct 78 of =99; of the Republic of 1outh ,frica regulates theposition.In this regard written informed consent is required for theremoval of biological material for use in genetic research."he latterright relates to how any data derived from such research should bedealt with which is the focus of this paper."he right to privacy has been most famously described as the right tobe left alone %;' and includes the right to control the dissemination ofinformation about one-s private life.In the modern context the right toprivacy is guaranteed either expressly in the !onstitution of theRepublic of 1outh ,frica 8&&7 or the 0-s /uman Rights ,ct 8&& forexample or implicitly as is the case in the 01, where the 1upreme!ourt stated in Griswold v !onnecticut ;8 0


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genetic information.In this regard institutions that $eep or disclosegenetic material records and other individually identifiable or relatedhealth information must ensure among other things that theinformation is treated confidentially and anonymously if used forresearch purposes and that written informed consent is obtained

before a person-s specific information is released to any relevantperson.In the 01, the /ealth Insurance 3ortability and ,ccountability,ct (/I3,,) of 8&&7 provides regulations relating to privacy andsecurity of patientclient records but does not cover deidentifiedinformation.,dditionally the 3atient 1afety and Kuality Improvement,ct of =996 contains more stringent regulations regarding patientinformation to increase patient safety.It would seem therefore thatequivalent protection is granted in the 01, although seemingly onlyinsofar as it relates to the doctorpatient relationship rather than theposition of genetic research participants and while possible it isunsure if the legislation would be interpreted extensively enough to

include them as well.1ome of these concerns were also recently raisedin a 01 report on privacy and progress in whole genome sequencing%5'.In the 0 no additional specific legislation apparently existsregarding privacy in genetic research although case law on this issueindicates that the primary concern of the law is to protect theconfider#patient-s personal privacy which can be safeguarded throughanonymisation (see R v 2epartment of /ealth %=998' K


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relating to a living individual who can be identified from the data itselfor from the data and other information which is in the possession ofthe controller of such data.In terms of 1chedule 8 to the ,ct certaindata protection principles (which are universally applicable in the 0)must be adhered to including that data must be processed fairly and

lawfully.,ccordingly data should be processed subject to thepurposes for and the conditions under which it was acquired whileadhering to all relevant legal principles (be they found in legislationconventions or otherwise) and also bearing in mind the nature of thedata itself.>ith regard to the latter aspect a distinction is drawnbetween merely personal data and sensitive data.1ensitive data interms of 1chedule ; includes information relating to the race or ethnicorigin of a person or their physical or mental health.In terms of the,ct fair and lawful processing of such data entails that the datasubject give explicit consent unless among other things theinformation is necessary to protect the vital interests of data subject or

another person deliberately made public by the data subject or isused by a health professional and is necessary for medical purposes.Inthis regard it is submitted that >G1 research could be seen to besensitive data that would require explicit consent."hisnotwithstanding it must be noted (as shown above) that 0 courts areof the opinion that sufficiently anonymised data would not beproblematic.In general data protection in 1outh ,frica is currently regulated by!hapter FIII of the lectronic !ommunications and "ransactions ,ct =6of =99= which only deals with information obtained through electronictransactions and which therefore would in all li$elihood not apply to

most instances of >G1 research.,dditionally the specific provisionsof the ,ct have elicited other criticism %see Fan 2er Cerwe et al.%7''due to the fact that the data protection principles do not adhere toacceptable international standards (for instance no special treatmentis afforded for sensitive data) and are voluntary in nature."o addressthese shortcomings new legislation has been proposed in the form ofthe 3rotection of 3ersonal Information Bill (B&=99&) which providesfor greater security openness and accountability and also creates adistinction between standard and +special personal- information whichwould include information relating to >G1 research and wouldrequire explicit consent for purposes of processing.,ccordingly the

Bill if enacted will bring 1outh ,frican data protection laws in line with0 standards and also serve to strengthen the current framewor$ forprivacy in >G1 research in 1outh ,frica.In contrast to the stringent regulation found in the uropean 0nionand the subsequent 1outh ,frican attempts to $eep in step with theserequirements the 01, has no specific protection regarding dataprivacy of individuals over and above what has already been statedexcept for incidental regulation %@'."he fact that there is no
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international harmony in this regard is problematic as both the 02ata 3rotection ,ct and the 0 2ata 3rotection 2irective provide thatno transfers of data to outside the uropean conomic ,rea may bemade unless adequate protection is guaranteed.,ccordingly if thestated principles are not adhered to this could constitute a barrier to

both transnational research and access to research information.,s a compromise in the above situation an exception exists in boththe ,ct and 2irective to allow transfers to third countries if amongothers a data subject gives unambiguous consent to a transfer A whichconsent must be freely given specific and informed or the transfer ison terms approved or authorised as ensuring adequate safeguards.Inthis regard the uropean !ommission has developed prescribedstandard contract terms for data transfer agreements (!ommission2ecision =989#@#0) as well as a method whereby a multinationalcorporation can develop binding corporate rules that subject toapproval through 0 cooperation procedures would ensure

acceptability of a transfer (for more on this see %').4inally the 01,and 0 have also entered into a socalled +1afe /arbour- agreement(!ommission 2ecision =999#6=9#!) which encompasses a set ofvoluntary selfregulatory principles in order to assist in facilitating datatransfer.It would seem that the privacy concerns relating to >G1 research arenot overly problematic in most countries as long as the anonymitythereof can be guaranteed.4orgL et al< %&' point out that this ishowever not so simple because it is necessary to $eep an identifiablelin$ between a donor and his genetic data to be able to give feedbac$on relevant findings connected to the donor-s genetic data and also

when one ta$es into account the uniqueness of genetic data.,s aresult true anonymisation is not a viable option for geneticresearch.Howrance and !ollins %8&' identify methods of mitigatingthis such as through limited release of genome segments but alsoindicate how this may pose its own problems for research."hus itwould seem that the most prudent route is still to obtain expresswritten consent from research participants."his process does notcome without its problems as express consent is required to be freelygiven fully informed and with reference to processing and transfer ofdata must be specific in nature."his means that the use of informedconsent forms that are overly broad or vague may end up creating

instances where researchers believe themselves to be operatinglawfully when technically they are not."his is further exacerbatedboth legally and ethically in the ,frican context where often researchis conducted using participants who may not be literate or fullycomprehend the nature and extent of the consent which they purportto give.

Recommendations for future genomic studies in ,frica
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4uture >G1 studies in ,frican populations need to consider the pointshighlighted above in order to perform appropriate research.,lthoughnot allinclusive this would be aided by the development of local>G1related policies (including the promotion of sharing informedconsent documentation) as well as the investment in relevant training

and the development of educational aids., variety of useful onlineresources for ethical and legal considerations for >G1 studies in,frican populations can be found in "able 8."able 80seful online H1I resources especially relevant for performingresearch in ,frican populations

Development of local WE!"related policies"he development of local policies and legislation that are relevant to>G1 research (e.g< informed consent data sharing and the return ofresults) will be essential for performing successful genomics researchin ,frica.It is recommended as far as possible that standardised

methods to obtain informed consent from research participants shouldbe developed in order to ensure that a generally applicable andrecognisable procedure is established.It is advisable not only to havethese forms drafted in the lingua franca of research participants butalso in language which is clear succinct and easy to understand.venwhen not dealing with illiterate participants it is generally bestpractice to explain the nature and extent of the informed consentdocument in order to fully ensure observance with both the letter andthe substance of the laws surrounding research and data protection.Inthe instance where one does deal with illiterate participants it istechnically possible to obtain written consent through the use of a

thumbprint or other identifying mar$ if one is able to provide proof thatthe +signed- document has been adequately explained to theparticipant.In this regard additional information providing meanssuch as video recordings would be advised.Given that there is a movement towards greater and more open accessto >G1 research and findings it is in the best interests of all involvedto share novel ways and best practices in order to develop auniversally applicable standard in this regard."his is particularlyrelevant for templates of the informed consent documentation thathave been employed in >G1 studies in ,frican populations that havesuccessfully been through the IRBs#R!s review process.It has been

suggested that that this could be achieved through dedicated publicdatabases for such templates and#or the inclusion in supplementarymaterial %5'.3resently the lac$ of transparency in informed consentdocumentation at the levels of individual researchers and universitiesand that many journals do not appear to currently have policies thatpromote the availability of informed consent templates and standardoperating procedures may hamper researchers in resourcelimitedsettings designing robust >G1 informed consent documents.Cost
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need to improve genetic literacy in sub1aharan ,frica %&='.>or$shopsfor training members of IRBs#R!s as well as interested researcherswill aid in ensuring informed ethical review processes for >G1studies.3ublic lectures#information sessions could be used to educatethe community and gauge the public perception of >G1

studies.Internationally the ethical and legal concepts raised by >G1studies in humans are gaining attention %5&;'.Recommendationsfrom the recent :ctober =98= 01 3residential !ommission for the1tudy of Bioethical Issues Report M3rivacy and 3rogress in >holeGenome 1equencingN %5' should be analysed and used to aid indrafting recommendations for ,frican situations.How educational levelsof research participants with regards to genetic#genomic concepts mayrequire the development of unique educational materials to be usedduring the informed consent process.Interactive explanations and theuse of novel technologies to explain complicated concepts to researchparticipants will be integral in this regard.4or example the integration

of emerging software applications (i.e< apps) similar to the IlluminaCyGenome i3ad app %&5' could be used during the recruitment stageof >G1 studies.,n encouraging sign for future >G1 studies in ,frica is theinvestment in an thical Hegal and 1ocietal Issues (H1I) Research3rogram by the /;,frica Initiative which will ma$e almost O= million infunding available over a period of three years %&6'."he 1outhern,frican /uman Genome 3rogramme which will be involved in thesequencing of ,frican genomes and has received provisional fundingfrom the 1outh ,frican 2epartment of 1cience and "echnology alsoaims to highlight relevant H1I topics brought up by such research

%&7'.4inally meetings such as the thics and Genomics Research in,frica (,GR,4RI!,) !onference %&@' will positively contribute to thefield by bringing researchers from across ,frica and the rest of theworld together and facilitate networ$ing and collaboration.

thical legal and societal issues (H1I)relatedresearch needs in ,frica

>hile a number of H1Irelated research studies have now beenconducted in ,frica %for example see Carshall et al.%@@' CalariaG.%8' "e$ola et al.%7=@' .yi$a %7&' Carsh et al.%@&'' more studiesare urgently needed.1uch H1I research could include*

Issues of informed consent data sharing identifiability and disclosureof secondary#incidental findings in >G1 studies in contrast to G>,1or candidate gene studies in ,frica.1tudies of how genomics findings are perceived in relation to ethnicityand identity in sub1aharan ,frica.thical and legal aspects of biorepositories and longtermstorage#distribution of biological material for genomic studies.
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,nalysis of how IRBs#R!s in ,frican countries and institutionscurrently review >G1 studies."he relevance of local ,frican legislation and governmental policies inthe context of >G1 studies in ,frican populations."hese and some other issues are highlighted in the =98=#8; /;,frica

call for applications for H1I research programs (mentioned in theprevious section)., summary of various H1I issues faced by >G1 in,frica raised in this study as well as potential recommendations to helpaddress some of the aspects can be found in "able = ."able =!hallenges and recommendations for ethical and legal issues forperforming >G1 studies in ,fricapagin 2

!hallenges and recommendations for ethical and legal issues forperforming >G1 studies in ,frica

I!!$E C%A&&E'E REC())E'DA#I('

Informedconsent anddata sharing

Himited availability ofinformed consentdocumentation templatesfor genomic studies in,frican populations

Journals and researchersshould promote the publicavailability of these documents

!ultural and ethnicdiversity in ,frica

!ommunity engagement rapidassessment processes andlocal field wor$ers

Hanguage differences nsure the use of translatorswho are aware of culturalsensitivities

Himited data on localviews on genomic datasharing and relatedconcepts (e.g< privacyand stigmatisation)

Generate empirical data onthese concepts and opinionsthrough relevant research

2isseminatin

g secondaryfindings

Hac$ of local policies and

guidelines

3erform studies on ,frican

research participants- attitudestowards return of >G1results.ncourage IRBs#R!1to develop such documentation

Insufficient geneticcounsellors andbioinformaticists

"raining programmes and thecreation of posts for theseprofessions
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I!!$E C%A&&E'E REC())E'DA#I('

Himited understanding ofthe penetrance of geneticvariants in ,fricanpopulations with uniquegenetic bac$grounds andenvironmental exposures

Investment in ,frican >G1medical research and relatedinfrastructure

2evelopment of locallegislation

!urrent legislation is notdrawn up with medical>G1 research in mind

"he development of locallegislation that is relevant for>G1 research and in line withinternational best practices

.umerous ,fricancountries with differentlegislation

!onduct jurisprudence studiesthat analyse relevantlegislation in understudied

,frican countriesHimitedresources

3oor education#literacylevels

2evelopment of uniqueaccessible educationalmaterials

Himited numbers ofIRBs#R!s and manymembers are notfamiliar with genomicprinciples

3erform training wor$shops andensure that funding is allocatedto these groups

,bility to perform the

equivalent of !HI,validation in locallaboratories may belac$ing

,nalyse local laboratory

standards and performvalidation in foreignlaboratories if necessary

11.ethical concerns for whole genome and whole exome sequencing studies

Documents