Prerequisites for effective genetic counseling.

The definition of genetic counseling is: 

Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates the following: Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence. Education about inheritance, testing, management, prevention, resources and research. Counseling to promote informed choices and adaptation to the risk or condition (REF: National Society of Genetic Counselors' Definition Task Force, Resta R,Biesecker BB, Bennett RL, Blum S, Hahn SE, Strecker MN, Williams JL. A new definition of Genetic Counseling: National Society of Genetic Counselors' Task Force report. J Genet Couns. 2006 Apr;15(2):77-83).

The most important requirement for genetic counseling is an accurate diagnosis of the disorder. Accurate diagnosis depends on the skill and service of clinicians trained in clinical genetics, results of diagnostic tests performed in laboratories equipped to perform and interpret the required assays and obtaining a detailed family history (pedigree).  

For instance, in the case of multiple miscarriages – it is the obstetrician or gynecologist who has to identify the patient who could benefit from genetic testing.  Couples with two or more spontaneous miscarriages are considered at a higher risk of being a carrier of a balanced translocation and therefore at risk of a fetus with an unbalanced karyotype.  This risk would be higher if there are family members who have experienced spontaneous miscarriages or other clinical indications of chromosomal abnormality (infertility, neonatal deaths, congenital abnormalities and developmental delay).  Use of appropriate words, language and techniques are essential to obtain critical information.  There are a number of reasons for miscarriages.  Chromosome abnormalities is one only one of them (http://www.aafp.org/afp/2005/1001/p1243.html).  Genetics counselors have to develop skills to obtain as much information as possible from the couple to provide the most accurate information to help the couple. An important task of genetic counselors is to obtain an informative family history (pedigree).  Unless an obstetrician or gynecologist refers a patient to a genetic counselor this essential step of obtaining a family history may be missed during the clinical work up.

Access to laboratories that can provide a reliable and accurate report is important for effective genetic counseling.  Genetic counselors play a major role in evaluating the standards of laboratories.  

It is critical that the couple understands the results to act upon.  Genetic counselors have to be comfortable with the scientific information to convey the information to the couple and ensure that the couple understands the information provided to them. A variety of teaching tools may be required to adequately educate the family on the genetic basis, recurrence risk, management etc.

Spontaneous abortion is used as an example here; the scenario could be more complicated for other disorders.  There are a number of disorders with significant similarities in phenotype but with different genetic basis (different genes as well as different patterns of inheritances).  In some instances the skill of a well trained clinician, to make a clinical diagnosis, is imperative before a laboratory test is performed to make or confirm the diagnosis.  This is especially important as many laboratory investigations for genetic disorders are expensive.  Therefore the most informative laboratory testing should be considered based on the clinical diagnosis.

Once a diagnosis has been confirmed, management may involve a variety of options, depending on the situation.  In the case of prenatal diagnosis the decision may be termination of pregnancy or continuation of pregnancy (that may be of a high risk nature).  In the case of post-natally diagnosed cases, the needs may be one of many (surgical, clinical, nutritional/dietary, physical therapy, educational etc).

When establishing a genetic counseling service, the question should be – are the pre-requisites in place for adequate genetic counseling?  

Are there well trained clinicians who can identify patients/families who can benefit from genetic counseling?

Do clinicians take detailed family histories?  If not, do clinicians refer patients to genetic counselors to obtained family histories as well as co-ordinate testing?

Are laboratories that can provide reliable testing available?

If applicable, do clinicians explain the genetic basis of a disorder to the patients?  If not do they refer the patients to trained genetic counselors?

Are there adequate facilities for safe termination of pregnancy?  Are there adequate facilities for monitoring high risk pregnancy and deliveries?

Are there adequate facilities for clinical and therapeutic management for post-natally diagnosed cases?  Are there support services available for patients and their families?

 Optimal genetic counseling is a relatively complex process that requires a variety of facilities.  Identifying these facilities or developing them is critical before genetic counseling is offered as a service.

Parent support groups for genetic disorders

Parent support groups play an important role in a variety of capacities for patients, families, healthcare professionals and researchers. (REF:  J G Hall.  The role of patient advocacy/parent support group.  South African Medical Journal Vol 103(12):1020-1022, Dec.2013.  http://www.samj.org.za/index.php/samj/article/view/6976/5581

The Foundation for Prader Willi Research (http://www.fpwr.org/) is a well established support group.

MERD India is a parent support group in India   http://www.merdindia.com/index.html.  I have had the privilege of meeting Mr. Vikas Bhatis, a founding Member of MERD India.  Students in the field of Genetic Counseling can gain a great deal on the perspective of a member of a family at risk of a genetic disorder.

Considering the valuable role of such organizations, what role does the healthcare professional play in encouraging parents to start a support group?  Professionals in the field of genetics, in particular, genetic counselors can be both catalysts as well as activists in helping families start support groups, provide technical guidance as well as help with operational needs including fund raising and grant writing.   A review of the Prader Willi Research Foundation web site is educational to understand the potential of such support groups.  Check out the Board of Directors of the PWRF to see how the members are all parents of children with PWS.    The range of information in the websites is very broad. There is educational material for all including families of children with PWS, students in the field of genetics, scientists and researchers as well as for any individual interested in learning about the various aspects of PWS.

Social media aiding in the diagnosis of genetic disorders

Can parents and families help professionals in the diagnosis of genetic conditions?  There is ample material available for the diagnosis of “relatively common” conditions such as Down syndrome.  This however, is not so in the case of rare disorders.  The use of social media in identifying additional cases  with rare mutations is illustrated in the article by parents of two patients with mutations in the enzyme N-glycanase 1 (NGLY1) (REF:  Might , M and Wilsey, M  The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated.  Genetics in Medicine 16:736-737, 2014.  http://www.nature.com/gim/journal/v16/n10/pdf/gim201423a.pdf). In this article the authors used social media to help identify additional patients with the mutation detected by whole-genome, whole-exome or standard Sanger sequencing.  Patients were linked together after parents, physicians, or scientists working on isolated cases searched online for “NGLY1.” They found a blog post describing the disorder written by the parents of the first confirmed patient (http://matt.might.net/articles/my-sonskiller).

The following points are quoted from the article:

• Share early, share often. Collaborate across institutions, disciplines, patients, and parents. We recognize that this is easier said than done, but it is essential. Share data. Share negative results. For findings too small to be publishable, turn to the Web and publish them in short blog posts. Get the information out there. When Stanford and Baylor did whole-genome sequencing in the Fall of 2011 on an NGLY1 patient, they produced eight candidate genes (including NGLY1) to explain the phenotype. Stanford and Baylor shared their list of variant candidates quickly. It was a dialogue with clinicians, other researchers, parents, and bioinformatics experts. The teams triaged the list and worked systematically to close certain doors. Stanford and Baylor initially thought another gene was the main culprit, but functional work did not support this. Both teams continued to refine until NGLY1 was confirmed via functional assays. The lesson is that genetics is an iterative process.

• Balance the bottom-up with the top-down. We recognize that much of science happens “bottom-up,” with open ended investigations uncovering basic truths. Balance this approach with “top-down,” measurable goals that are grounded in patient’s needs. We know science takes random turns and there will be setbacks and pitfalls, but no successful business has been built without measurable goals and targeted objectives. Strike a balance.

• Move fast and break things. This motto is common in Silicon Valley, but has been popularized by Facebook CEO Mark Zuckerberg. Genetics, like any branch of medicine, is justly conservative when it comes to patients (“Do no harm”). We do not suggest that you should be less thorough or loosen protocols. We simply suggest that you take risks to make discoveries, even if ideas or assays fail along the way. Failure is good. We can all build upon those failures if we share.

The authors conclude with the following:

In order to diagnose patients, we must admit the limitations of our medical knowledge. Sometimes the best ideas come from individuals “outside the box” (i.e., patients and parents). Pay special attention to the smallest details (e.g., lack of tear production); sometimes the least likely gene candidate is the answer. Last but not least, thank you. What you do is truly remarkable. When you have a bad day in the clinic or the laboratory, please remember that there are patients and parents out there who you do not know and who are dreaming of finding you, supporting you, and counting on you. 

Can a similar scenario operate in the diagnosis of genetic disorders in a healthcare system in which there is a dearth of trained professionals required for the diagnosis of genetic disorders?  Could social media help to identify healthcare professionals in an healthcare system who can help in the process of diagnosis and management?  One would think so.