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Int J Anat Res 2017, 5(3.3):4419-23. ISSN 2321-4287 4419

Original Research Article

A STUDY ON SUFFICIENCY AND RELEVANCY OF KNOWLEDGE OFGENETICS: A GENERAL PRACTITIONERS PERSPECTIVESaurabh P Kulkarni 1, Archana G Kalyankar *2.

ABSTRACT

Address for Correspondence: Dr Archana G Kalyankar, Associate Professor Of Anatomy, GovtMedical College, Aurangabad, Maharashtra, India. Mobile No. – 9702169287E-Mail: [email protected]

Background: Modern diagnostic policies recommend evaluation of genetic susceptibility of common diseases.With the advances in genetic research many genetic tests are available for prevention and early diagnosis ofsuch diseases. General practitioners perform key role in primary screening and directing patients for diagnosis.Awareness amongst them about application of fundamental principles of hereditary and appropriate referralsystem can help society in decreasing burden of such diseases. But lack of this orientation in GPs as noted bymany authors demands educational intervention at training level as well as for improving competency ofpractitioners.Aim: To evaluate genetic knowledge of GPs on behaviour and attitude scale.Methods: Prevalidated questionnaire was used to obtain perceptions of GPs for their knowledge, attitude andbehaviour through true/false questions and Lickerts scale.Results: GPs are deficient in evaluating risk factors and prompt referral for diagnostic techniques. They lackrequired knowledge for associating fundamental principles of genetic with clinical conditions. Their behaviourtoward record keeping and sensitizing patients was inappropriate. Their attitude needs to be changed so thatthey can understand gravity of genetic disorder and use of advanced genetic techniques.Conclusion: Educational interventions for case-based and competency based medical education modules attraining level and continuous medical education programme on genetic issue are indicated for improving GPsknowledge ,behaviour and attitude regarding application of genetic principles in management of patients.KEY WORDS: General Practitioners, Genetic, Knowledge, Educational Interventions.

INTRODUCTION

International Journal of Anatomy and Research,Int J Anat Res 2017, Vol 5(3.3):4419-23. ISSN 2321-4287

DOI: https://dx.doi.org/10.16965/ijar.2017.357

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DOI: 10.16965/ijar.2017.357

1 Assistant Professor of Anatomy, Govt Medical College, Aurangabad, Maharashtra, India.*2 Associate Professor of Anatomy, Govt Medical College, Aurangabad, Maharashtra, India.

Received: 19 Jul 2017Peer Review: 19 Jul 2017Revised: None

Accepted: 05 Sep 2017Published (O): 30 Sep 2017Published (P): 30 Sep 2017

services, discussing the basic advantages anddisadvantages of genetic tests, and obtainingadditional resources are now considered asintegral part of primary health care in commu-nity [2]. As genetic tests are marketed forcommon diseases, genetics will no longer be thesole domain of geneticists and genetic counsel-lors [3].General practitioners (GPs) perform a role of

Genetic knowledge and technology has oftenbeen presented in terms of “revolution” and“radical change” [1]. With the increasingincidence of diseases like breast and coloncancers ,evaluation of their genetic basisattracts attention while deciding treatmentmodality . Taking a family history, assessing riskof hereditary disorders, referring to genetic


gate-keeper in delivering primary care and di-recting modalities of diagnosis. Their importancein interpreting family history; recognizing thevariable clinical utility of genetic information,and acquiring cultural competency is a crucialfactor for higher levels of health care [4]. Henceintegrating primary care, medical education andgenetics expertise for dealing the key issues ingenetic education for primary care as (1)considering inherited disease in the differentialdiagnosis of common disorders; (2) usingappropriate counselling strategies for genetictesting and diagnosis, and (3) understanding theimplications of a genetic diagnosis for familymembers is utmost important [5,6].Application of the principles of outcome-basededucation to the field of medical educationresearch requires strong feedback system.Understanding changing nature of social needs;educational objectives of curriculum must besubjected to rigorous standards of reliability andvalidity, particularly in relation to assessmenttools that are used to evaluate outcomes. Tomeasure the genetic-related knowledge andpractice of health professionals in primary careforms ground for curricular reformations as wellas strengthening desired skills in practitioners[7,8]. This study attempts to evaluate presentstatus of utility of fundamentals and advancesof medical genetic in clinical practice incorpo-rating scales that measure knowledge,behaviour and attitudes.Aim and objectives: To evaluate clinicalcompetency of GPs in delivering geneticinformation based on their knowledge,behaviour and attitude. To take perceptions ofGPs on current curricular contents andteaching-learning modalities in genetic at gradu-ation level.

2 was knowledge scale which contained tenquestions to be answered in True/Falseformat. Section 3 was behaviour scale where fivedifferent case scenarios were given. GPs weresuppose to response for their way of handlingthe case, which is evaluated by awarding pointsfrom 1 to 3 for each response. Score 3 for eachquestion is considered exellent, score 2 appro-priate and score 1 inappropriate. Section 4 wasattitude scale where 16 items were to beresponded on Lickerts scale. Total score ofattitude ranged from -32 to +32 [9,10].Interviews were conducted for 56 GPs. Theywere asked about their practical problems inhandling genetic issues, knowledge of advanceddiagnostic techniques and their nearby availabil-ity. It also involved their mode of acquiringknowledge of genetic and sufficiency of thatknowledge with current practice. Whatever theylearned in graduate course was relevant andappropriate for that particular year of course ornot. What teaching-learning methodology wasused for genetic during the course and what theythink would had been used was asked.11 Geneticcurricular details were discussed and their opin-ion on sufficiency and relevancy was asked for.

MATERIALS AND METHODS

Responses on prevalidated questionnaire [4]were obtained from general practitioners (GPs)along with interviews of GPs. Questionnaireinvolved four sections. In section 1 informationon individual GPs incorporation of geneticknowledge in history taking and record mainte-nance was considered. It also involved questionson how and when during their graduation stud-ies they acquired knowledge of genetic. Section

RESULTS

126 GPs out of 300 responded to questionnaire.Practitioners involved in the study see 396patients (median value) with range from 265 to437 per week. Family history is recorded as ahandwritten text by 98 practitioners; nobodyrecords it in pedigree chart format. Discussinggenetics issues with patients was foundcomfortable by 109 practitioners.91 GPs learnt subject of genetics withoutformal teaching whereas only 12 responded thatthey learnt it in first MBBS Anatomy lectures andnot later.GPs are not clear about the curricular contentsof genetics they had. They were unable tocorrelate fundamental principles of geneticswith clinical practice.102 GPs have idea of diagnostic techniques ingenetics and they are restricted untoultrasonography. None of them have any knowl-edge of advanced techniques of investigation.Only 12 GPs ever referred additional resources

Saurabh P Kulkarni, Archana G Kalyankar. A STUDY ON SUFFICIENCY AND RELEVANCY OF KNOWLEDGE OF GENETICS: A GENERAL PRACTITIO-NERS PERSPECTIVE.


for evaluation of genetic issues. On knowledgescale 78 GPs could score 2 while on 7 could score4 out of ten as majority were unsure about facts.

KNOWLEDGE SCALE

0102030405060708090

ZERO ONE TWO THREE FOUR

SCORE OF GPs

NO

. OF

GPs

Series1

On behaviour scale very few GPs could give veryappropriate response for all five questions.Maximum GPs chose inappropriate way ofbehaviour in three conditions.

Attitude scale involved total 16 items and scoreranged from -32 to +32. Generalised attitude ofGPs appeared poor as their score lied below 16.

ATTITUDE SCALE

05

101520253035404550

TEN

ELEVEN

TWELVE

THIRTEEN

FOURTEEN

FIFTE

EN

SIXTEEN

SCORES BY GPs

NO. O

F G

Ps

Series1

alert patients to genetic risk in the absence ofeffective screening technologies and therapiesto reduce risk or prevent disease.They comment:The problem with these diseases [breast andovarian cancer] is what can you do about it ifyou’ve got the gene? Why to raise issue andmake patients life miserable.Preventive aspect of genetic counselling theydenied by saying:How do genes and lifestyle interact? Will adopt-ing a healthy lifestyle change their genes, theirgenetic risk? These are the things I need to know.They accepted that they were not trained in theseregards, so they give less emphasis on riskfactors and intimating patients. One of themwas not clearly distinguish between familial andhereditary.I would take ‘familial’ to mean conditions thatcrop up in the family in relatives who aren’trelated—for example, I see depression, alcohol-ism, and obesity affecting husbands and wives.Many of them were never exposed to anygenetic teaching module. As it was not consid-ered vital part of curriculum, fundamentalprinciples of genetics they could not absorb.Bedside clinics often ignored importance offamily history. Indoor patient care overlooked ongenetic basis of common diseases and certainlyknowledge of genetics seldom required apartfrom rarely visiting patient of Down syndromein paediatric OPD. Participant agreed that theywere never taught to consider causative factorsfor spontaneous abortions and their effect onmothers’ health.Thus as per GPs opinion there is generalisedapathy in training modules for sensitising futurepractitioners for genetic basis of commondiseases has percolated in their practice. Tomodify scenario they suggested ContinuousMedical Education (CME) on genetic topics forthem may be helpful. But they more focussedon better clinically oriented modalities for teach-ing-learning genetic.

In the above context where genetic advanceswere seen as having little relevance for prac-tice, interview of majority of GPs showed theirdisinterest in understanding their role in treat-ment of genetically controlled disorders.My strength lies in knowing ... in which direc-tion to send the patients. I am not an expert ingenetic counselling or calculating risks, whichis beyond my practice.Their reluctance is reflected as:Genetic conditions are not my bread and butter;the new genetics has little impact on my day today clinical workParticipants who were aware of the ongoinggenetic research of common diseases (such asBRCA1 and BRCA2 conferring susceptibility tobreast and ovarian cancer) were reluctant to

DISCUSSIONCarrol et al states that The Human GenomeProject led to a rapid increase in the number ofgenetic diseases for which genetic testing is



available. Patients are likely to hear aboutgenetic advances through the media and will turnto their primary care providers, but in develop-ing world as well as some developed countriesthese primary care providers lack the knowledgeand skills required to effectively deliver geneticservices. Mere unawareness about the genetictests is not the challenge, but attitude of fam-ily physicians and other professionals benefic-ience and non-maleficience of genetic testingdetermines its effectivity. Similarly how todeliver genetic education to them, how muchand at what level with which teaching-learningmodality in ways that respect the beliefs,expectations, and culture of primary care [3].Many groups have developed guidelines forgenetic education and defined core competen-cies in genetics for health care providers. Withthe availability of advanced diagnostic methodsfor inborn errors of metabolism , impact of phar-macogenetics in theraputics and research incancer genetic demand improvement in refer-ral decisions regarding patients with positivefamily history particularly in commonly encoun-tered conditions like breast and ovarian cancer.Continuous medical education (CME) as aneducational interventions, involving interactivesessions, may help in updating knowledge butnothing can replace role of teaching fundamen-tal principles of genetic with bedside clinicduring graduation studies [4,12].The Genetics Education Project was created tohelp GPs in Ontario obtain the knowledgeneeded to help their patients make informeddecisions regarding genetic services. Geneticeducational materials for GPs were developedand evaluated, and a dissemination strategy wascreated. In accordance with research showingthat “the use of local opinion leaders cansuccessfully promote evidence-based practice”[3,4]. Burke et al found three areas of potentialcontroversy: (1) the role of nondirective coun-selling versus shared decision-making in discus-sions of genetic testing; (2) the intrinsic valueof genetic information when it does not influ-ence health outcomes, and (3) indications for agenetics referral. The project provides anopportunity for ongoing discussion about theseimportant issues. Various questions incorpo-rated rated in the present study are intended to

overcome this controversies [5].In this context present study identifies the“therapeutic gap” as a reason for not raisingthe issue of genetic risk in the context ofcommon diseases [5]. Policy makers had alwaysoverlooked the genetic basis of diseases andtherefore its potential to cause harm were neverconsidered . They are wrong to assume thattraditional methods of education, training, anddecision support systems will ensure thatgeneral practitioners are willing to implementthe new genetics. Resistance to implementingnew genetic knowledge is more than defensivefence building; it reflects a commitment toholism [13,14].Educational interventions are meant for knowl-edge translation including exchange, synthesisand ethical application of knowledge [14]. Asnoted by many authors, at the base of knowl-edge translation is the predisposition to changewhich is conbined effect of cognitive, affectiveand psychomotor domain. Regardless of howgenetics knowledge and clinical skills in primarypractice are integrated and delivered, need toevaluate the effectiveness of such dissemina-tion in order to demonstrate that changes inknowledge and clinical skills forms foundationof curricular reforms and application of newerteaching-learning modality [15]. This study at-tempts to evaluate a multifaceted and complexlearning intervention in genetics, as part of asystematic effort to improve genetic educationin primary care providers, and draws attentionof policy makers towards modified strategies forbehavioural change, as well as improvement inknowledge and attitudes in GPs. More detailedlongitudinal findings on a larger population ofGPs who received this intervention are reportedfrom developed countries [16]. We sincerelyaccept that additional outcome measures arerequired to capture knowledge translation, andit can be debated to what extent data collectionby questionnaire alone can evaluate this.

Genetic basis of common disorders would be thefuture trend in diagnosis and management ofthem. We observed in this study that GPs whoare gatekeeper of primary heath care are lack-ing sufficient knowledge for delivering genetic

CONCLUSION



information. Inappropriate behaviour of GPs untoevaluating risk factors of genetic disorders isfetching them in ethical dilemma. Hence todevelop holistic attitude amongst GPs along withcontinuous medical education; this studyrecommends relevant, case-based geneticteaching in an interactive, interdisciplinarylearning environment where medical studentscan be fostered to be future GPs.Constructive feedback is building block ofcompetency based medical education. Thereforeperiodic questionnaire based studies like thismay help in bridging therapeutic gap betweenmedical educational policies and social,economical health of society.

[7]. Burke W, Emery J. Genetics education for primary-care providers. Nat Rev Genet.2002;3(7):561–566.

[8]. Clyman JC, Nazir F; The impact of a genetics educa-tion program on physicians’ knowledge and geneticcounselling referral patterns. Med Teach.2007;29(6):e143–e150.

[9]. Boynton P M, Greenhalgh T. Selecting, designing,and developing your questionnaire; BMJ.2004;328(7451):1312–1315.

[10]. Briggs SR, Cheek JM; The role of factor analysis inthe development and evaluation of personalityscales; J Personality. 1986;54:106–148.

[11]. Kumar S, Gantley M . Tensions between policy mak-ers and general practitioners in implementing newgenetics: grounded theory interview study.BMJ,1999;319(7222):1410–1413.

[12]. Hutchinson L. Evaluating and researching the effec-tiveness of educational interventions. BMJ.1999;318(7193):1267–1269.

[13]. Greendale K, Pyeritz R. Empowering primary carehealth professionals in medical genetics: how soon?How fast? How far? . American Journal of MedicalGenetic; 2001;106(3):223–232.

[14]. Kolb S, Aguilar M. Genetics education for primarycare providers in community health settings. J Com-munity Health. 1999;24(1):45–59.

[15]. Metcalfe S, Hurworth R . Needs assessment study ofgenetics education for general practitioners in Aus-tralia . Genet Med. 2002;4(2):71–77.

[16]. Metcalfe S, Aitken M. The importance of programevaluation: how can it be applied to diverse genet-ics educational settings. J Genet Couns. 2008;17(2):170–179.

Conflicts of Interests: None

REFERENCES

[1]. Emery J, Watson E, Rose P, Andermann A. A system-atic review of the literature exploring the role ofprimary care in genetic services. Fam Pract. 1999;16(4):426–445.

[2]. Royal College of General Practitioners. Genetics inprimary care: A report from the faculty geneticsgroup.London: RCGP; 1998.

[3]. Carroll J, Rideout A. Genetic education for primarycare providers: improving attitudes, knowledge, andconfidence. Can Fam Phys.2009;55(12)

[4]. Flouris A, Hawthorne G, Aitken M . Development of aquestionnaire for evaluating genetics education ingeneral practice . J Community Genet. 2010 Dec;1(4): 175–183

[5]. Burke W, Acheson L . Genetics in primary care: a USAfaculty development initiative .CommunityGenet; 2002;5(2):138–146.

[6]. Baars M, Henneman L, Kate L. Deficiency of knowl-edge of genetics and genetic tests among generalpractitioners, gynecologists, and pediatricians: aglobal problem. Genet Med; 2005;7(9):605–610,

How to cite this article:Saurabh P Kulkarni, Archana G Kalyankar. A STUDY ON SUFFI-CIENCY AND RELEVANCY OF KNOWLEDGE OF GENETICS: A GEN-ERAL PRACTITIONERS PERSPECTIVE.Int J Anat Res2017;5(3.3):4419-4423. DOI: 10.16965/ijar.2017.357


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