Home About us Editorial board Search Ahead of print Current issue Archives Submit article Instructions Subscribe Contacts Login 


 
 Table of Contents  
BRIEF COMMUNICATION
Year : 2017  |  Volume : 30  |  Issue : 2  |  Page : 633-635

Scope of genetic counseling in reducing the magnitude ofhereditary disorders: developing nations' perspective


Department of Community Medicine, Shri Sathya Sai Medical College & Research Institute, Chennai, Tamil Nadu, India

Date of Submission13-Nov-2014
Date of Acceptance22-Feb-2015
Date of Web Publication25-Sep-2017

Correspondence Address:
Shrivastava Saurabh RamBihariLal
Department of Community Medicine, Shri Sathya Sai Medical College and Research Institute, 3rd Floor, Ammapettai Village, Thiruporur, Guduvancherry Main Road, Sembakkam Post, Kancheepuram - 603 108, Tamil Nadu
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/1110-2098.215468

Rights and Permissions
  Abstract 

Genetic counseling is defined as a process of communication and education, which addresses concerns relating to the development and/or transmission of a hereditary disorder. Despite the proven utility of genetic counseling in improving the clinical outcome and quality-of-life of people, its overall contribution in the health sector has remained far from expected. Recognizing the scope of genetic counseling, the need of the hour is to deliver easily accessible and quality-assured genetic counseling services to the entire population. In conclusion, global expansion of genetic counseling services is the need of the hour, to have a significant impact on the patient-related clinical outcomes and on the psychosocial concerns of the family members.

Keywords: communication skills, counseling, developing nations, genetic, health


How to cite this article:
RamBihariLal SS, Saurabh SP, Jegadeesh R. Scope of genetic counseling in reducing the magnitude ofhereditary disorders: developing nations' perspective. Menoufia Med J 2017;30:633-5

How to cite this URL:
RamBihariLal SS, Saurabh SP, Jegadeesh R. Scope of genetic counseling in reducing the magnitude ofhereditary disorders: developing nations' perspective. Menoufia Med J [serial online] 2017 [cited 2019 Jun 19];30:633-5. Available from: http://www.mmj.eg.net/text.asp?2017/30/2/633/215468


  Introduction Top


Genetic counseling is defined as a process of communication and education, which addresses concerns relating to the development and/or transmission of a hereditary disorder [1]. It caters to the concerns of individuals/families who have a family history of serious diseases (whether they are susceptible to develop or transmit the disease) by assisting the family members in adapting to the accompanied challenges [2]. Genetic counseling has gained wide attention and is of remarkable utility in the diagnosis and management of multiple conditions [3]. Furthermore, it plays a vital role in ensuring that families of affected individuals understand the role that genetics play in the disease or disability [4].


  Genetic Counseling: Type and Scope Top


Genetic counseling may be prospective identification of heterozygous individuals for any particular defect by means of screening procedures and explaining to them the risk of their having affected children if they marry another heterozygote for the same gene, or retrospective (cases in which the genetic condition has already occurred) [1],[2]. During any genetic counseling session, the counselor's task is as follows: to reconfirm the existing/provided diagnosis by eliciting an accurate family history, detailed clinical examination, and appropriate investigations such as karyotyping; to explain the implication of condition in terms of its prognosis, mode of inheritance of the disorder, and its risk of occurrence and/or transmission; to inform about all treatment modalities with no attempt to lead the individual in any particular direction; to conduct psychosocial assessment; and to provide adequate support to the client/family members [4–6]. In other words, in a genetic counseling model, an assessment of three broad parameters – namely, background (family history, potential etiological factors, and population at risk), numeric probability, and perceived severity (nature/magnitude of outcome) – is carried out, to eventually estimate the perceived risk of the future offsprings [7].

As it is a highly sensitive issue, the counselor should be sensitive, good listener, and should provide privacy and applicable information to the patients [8]. In fact, one of the crucial roles of the counselor is to extend psychosocial support (prospective genetic counseling – providing the couple with mental support; guiding them with other means/ways of having a healthy child; and making them aware of the different challenges that await them if they do conceive a child irrespective of their heterozygous traits for a clinical condition – and retrospective genetic counseling – explaining to the couple that this is not the end of life, as there are many children in the world who suffer from a similar disorder and who are leading a near-to-normal life with the help of their parents' tender care/love/support; extending moral support and helping the couple to realize that none of them per se are responsible for the genetic anomaly in their child; counseling them to overcome the social stigma; linking them with social/governmental/nongovernmental agencies to familiarize them with the kind of care required for such a child and develop a sort of confidence/trust that they are not alone in this world facing this challenge) [2],[4],[7].


  Approaches to Expand the Genetic Counseling Services Top


Although the nature and type of genetic counseling services differ in variable settings based on the type of illness (namely, chromosomal anomaly/cancer/etc.) for which it is being used, the expansion of the same worldwide has not been uniform [3],[6]. Owing to the growing demand for genetic counseling worldwide, a number of approaches such as videoconference-based genetic counseling [9], training nurses as counselors [10], interactive computer educational programs [11], telephonic counseling [12], group counseling [13], and dissemination of information booklets to help patients make informed decisions about treatments [14], have been tried upon to expand the reach of the services. In addition, it has been proposed to progress from genetic counseling to genomic counseling to augment the benefit of the same [15]. In fact, cognitive and behavioral measures have been used in heterogeneous settings to differentiate the status of the counselees and/or their family between that before and that after genetic counseling [16].


  Barriers Limiting the Overall Utility Top


Despite the proven utility of genetic counseling in improving the genetic endowment of the human population and quality-of-life of people in multiple countries (Australia, New Zealand, Brazil, etc.) [2],[3], its overall contribution in the health sector has remained far from expected, as even now many children are born with such genetic anomalies that are definitely preventable [3],[6],[8]. In fact, expansion of genetic counseling services is the need of the hour to have a significant impact on the patient-related clinical outcomes and on the psychosocial concerns of the family members, especially in developing countries [17–19]. There are a wide range of different factors:

  1. Limited existence in some of the countries [16–20];
  2. Nonrecognition of the genetic counseling as an independent field, as genetic conditions are not considered as a public health priority [17],[18],[20];
  3. Shortage of qualified genetic counselors [6],[18],[21];
  4. Limited availability of clinical and laboratory resources desired for optimal genetics services [18],[20];
  5. Poor knowledge/awareness among healthcare workers about the need for genetic counseling [18],[22];
  6. Low or minimal awareness among general public [23];
  7. Limited adoption by people [24];
  8. Substandard communication skills during the sessions [25];
  9. Ethical and professional concerns [7],[26]; and
  10. Less rate of referral of carrier parents to avail services of genetic counseling [27],[28]. These factors have been attributed to the limited availability or utilization of the services, even where it is available.



  Proposed Measures Top


Recognizing the scope of genetic counseling, the need of the hour is to deliver easily accessible and quality-assured counseling services to the entire population by the use of cognitive and behavioral measures in heterogeneous settings to differentiate the status of the counselees and/or their family between that before and that after the session [28],[29]. Multiple interventions have been recommended to supplement the existing medical services:

  1. prioritizing genetic disorders as a public health concern by ensuring political commitment [16],[20];
  2. implementing measures for infrastructure development [20];
  3. empowering families with genetic knowledge [4],[23];
  4. creating awareness among the public and health professionals [23],[29];
  5. training primary healthcare professionals to become genetic counselors [9],[30];
  6. organizing training sessions to improve communication skills as a part of capacity building [25],[31];
  7. facilitating referral of high-risk individuals to genetic counseling sessions [27],[28];
  8. involving family members in the session [32]; and
  9. utilizing a standardized questionnaire in facilitating personalized communication about the problems encountered in genetic counseling sessions [33].


These strategies, if implemented in a systematic and well-planned way, will allow the people to adopt these services more often than not, and thus help in the detection of more of these genetic anomalies at an early stage. In short, it will reverse the current pattern – that is, more people will be opting for prospective genetic counseling (which is the prevention strategy in true sense), rather than going for retrospective genetic counseling.


  Conclusion Top


There is ample scope for genetic counseling in developing nations to ensure significant reduction in the magnitude of hereditary disorders. However, the policy makers have to identify the gaps in the local settings and plan appropriate corrective strategies to address the same.


  Acknowledgements Top


Conflicts of interest

There are no conflicts of interest.

 
  References Top

1.
Park K. Genetics and health. In: Park K, editor. Text book of preventive and social medicine. 20th ed. Jabalpur: Banarsidas Bhanot Publishers; 2009. 730–732.  Back to cited text no. 1
    
2.
Micheletto MR, Valerio NI, Fett-Conte AC. Effects of a genetic counseling model on mothers of children with down syndrome: a Brazilian pilot study. J Genet Couns 2013; 22:784–794.  Back to cited text no. 2
    
3.
Elackatt NJ. Genetic counseling: a transnational perspective. J Genet Couns 2013; 22:854–857.  Back to cited text no. 3
    
4.
Vickery G, Meyer RE. North Carolina's Genetic Counseling Program: empowering families with genetic knowledge. N C Med J 2013; 74: 537–540.  Back to cited text no. 4
    
5.
Resta R, Biesecker BB, Bennett RL, Blum S, Hahn SE, Strecker MN, Williams JL, National Society of Genetic Counselors' Definition Task Force A new definition of Genetic Counseling: National Society of Genetic Counselors' Task Force report. J Genet Couns 2006; 15:77–83.  Back to cited text no. 5
    
6.
Christinat A, Pagani O. Practical aspects of genetic counseling in breast cancer: lights and shadows. Breast 2013; 22:375–382.  Back to cited text no. 6
    
7.
Austin JC. Re-conceptualizing risk in genetic counseling: implications for clinical practice. J Genet Couns 2010; 19:228–234.  Back to cited text no. 7
    
8.
Gschmeidler B, Flatscher-Thoeni M. Ethical and professional challenges of genetic counseling – the case of Austria. J Genet Couns 2013; 22: 741–752.  Back to cited text no. 8
    
9.
Coelho JJ, Arnold A, Nayler J, Tischkowitz M, MacKay J. An assessment of the efficacy of cancer genetic counselling using real-time videoconferencing technology (telemedicine) compared to face-to-face consultations. Eur J Cancer 2005; 41:2257–2261.  Back to cited text no. 9
    
10.
Masny A, Ropka ME, Peterson C, Fetzer D, Daly MB. Mentoring nurses in familial cancer risk assessment and counseling: lessons learned from a formative evaluation. J Genet Couns 2008; 17:196–207.  Back to cited text no. 10
    
11.
Hooker GW, Leventhal KG, DeMarco T, Peshkin BN, Finch C, Wahl E, etal. Longitudinal changes in patient distress following interactive decision aid use among BRCA1/2 carriers: a randomized trial. Med Decis Making 2011; 31:412–421.  Back to cited text no. 11
    
12.
Madlensky L. Is it time to embrace telephone genetic counseling in the oncology setting? J Clin Oncol 2014; 32:611–612.  Back to cited text no. 12
    
13.
Ridge Y, Panabaker K, McCullum M, Portigal-Todd C, Scott J, McGillivrayB. Evaluation of group genetic counseling for hereditary breast and ovarian cancer. J Genet Couns 2009; 18:87–100.  Back to cited text no. 13
    
14.
Mancini J, Nogues C, Adenis C, Berthet P, Bonadona V, Chompret A, et al. Impact of an information booklet on satisfaction and decision-making about BRCA genetic testing. Eur J Cancer 2006; 42:871–881.  Back to cited text no. 14
    
15.
Ormond KE. From genetic counseling to 'genomic counseling'. Mol Genet Genomic Med 2013; 1:189–193.  Back to cited text no. 15
    
16.
Chien S, Su PH, Chen SJ. Development of genetic counseling services in Taiwan. J Genet Couns 2013; 22:839–843.  Back to cited text no. 16
    
17.
Balgir RS. Birth control necessary to limit family size in tribal couples with aberrant heterosis of G-6-PD deficiency and sickle cell disorders in India: an urgency of creating awareness and imparting genetic counseling. JAssoc Physicians India 2010; 58:357–362.  Back to cited text no. 17
    
18.
Mohanty D, Das K. Genetic counselling in tribals in India. Indian J Med Res 2011; 134:561–571.  Back to cited text no. 18
[PUBMED]  [Full text]  
19.
Patel DK, Patel M, Mashon RS, Patel S, Dash PM, Das BS. Clinical and molecular characterization of β(S) and (G)γ((A)γδβ)°-thalassemia in eastern India. Hemoglobin 2010; 34:604–609.  Back to cited text no. 19
    
20.
Margarit SB, Alvarado M, Alvarez K, Lay-Son G. Medical genetics and genetic counseling in Chile. J Genet Couns 2013; 22:869–874.  Back to cited text no. 20
    
21.
Choi KS, Jun MH, Ahn SH, Anderson G. Implementing and evaluating a nurse led hereditary cancer genetics educational program in a Korean breast cancer surgery clinic. J Korean Acad Adult Nurs 2008; 20:815–828.  Back to cited text no. 21
    
22.
Lee J, Cho HJ, Yoo HW, Park SK, Yang JJ, Kim SW, et al. The effects of a genetic counseling educational program on hereditary breast cancer for korean healthcare providers. J Breast Cancer 2013; 16:335–341.  Back to cited text no. 22
    
23.
Maio M, Carrion P, Yaremco E, Austin JC. Awareness of genetic counseling and perceptions of its purpose: a survey of the Canadian public. J Genet Couns 2013; 22:762–770.  Back to cited text no. 23
    
24.
Ayme A, Viassolo V, Rapiti E, Fioretta G, Schubert H, Bouchardy C, etal. Determinants of genetic counseling uptake and its impact on breast cancer outcome: a population-based study. Breast Cancer Res Treat 2014; 144:379–389.  Back to cited text no. 24
    
25.
Lerner B, Roberts JS, Shwartz M, Roter DL, Green RC, Clark JA. Distinct communication patterns during genetic counseling for late-onset Alzheimer's risk assessment. Patient Educ Couns 2014; 94:170–179.  Back to cited text no. 25
    
26.
Gershon ES, Alliey-Rodriguez N. New ethical issues for genetic counseling in common mental disorders. Am J Psychiatry 2013; 170:968–976.  Back to cited text no. 26
    
27.
Kaufmann JO, Krapels IP, Van Brussel BT, Zekveld-Vroon RC, OosterwijkJC, van Erp F, et al. After the introduction into the national newborn screening program: who is receiving genetic counseling for hemoglobinopathies in the Netherlands? Public Health Genomics 2014; 17:16–22.  Back to cited text no. 27
    
28.
Hafen LB, Hulinsky RS, Simonsen SE, Wilder S, Rose NC. The utility of genetic counseling prior to offering first trimester screening options. JGenet Couns 2009; 18:395–400.  Back to cited text no. 28
    
29.
Pompilii E, Astolfi G, Calabrese O, Calzolari E, Ferlini A, Lucci M, et al. Prenatal genetic counseling referrals for advanced maternal age: still room for improvement. Prenat Diagn 2014; 34:71–74.  Back to cited text no. 29
    
30.
Cruz AL. An overview of genetic counseling in Cuba. J Genet Couns 2013; 22:849–853.  Back to cited text no. 30
    
31.
Qari AA, Balobaid AS, Rawashdeh RR, Al-Sayed MD. The development of genetic counseling services and training program in Saudi Arabia. J Genet Couns 2013; 22:835–838.  Back to cited text no. 31
    
32.
Lynch HT, Snyder C, Stacey M, Olson B, Peterson SK, Buxbaum S, et al. Communication and technology in genetic counseling for familial cancer. Clin Genet 2014; 85:213–222.  Back to cited text no. 32
    
33.
Eijzenga W, Aaronson NK, Kluijt I, Sidharta GN, Hahn DE, Ausems MG, Bleiker EM The efficacy of a standardized questionnaire in facilitating personalized communication about problems encountered in cancer genetic counseling: design of a randomized controlled trial. BMC Cancer 2014; 14:26.  Back to cited text no. 33
    




 

Top
 
 
  Search
 
Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
Access Statistics
Email Alert *
Add to My List *
* Registration required (free)

 
  In this article
Abstract
Introduction
Genetic Counseli...
Approaches to Ex...
Barriers Limitin...
Proposed Measures
Conclusion
Acknowledgements
References

 Article Access Statistics
    Viewed375    
    Printed0    
    Emailed0    
    PDF Downloaded33    
    Comments [Add]    

Recommend this journal


[TAG2]
[TAG3]
[TAG4]