Helm immediately segues to the late psychiatrist Elisabeth Kübler-Ross, most noted for her groundbreaking work On Death and Dying, and its accompanying theoretical framework, "The 5 Stages of Grief." While not all rare genetic disorders are automatic death sentences, some (too many) are. ALS, with its 2-5 year average survival rate is one. Cystic Fibrosis, with its limited lifespan is another. And consider rare pediatric genetic disorders in which ~25-30% of parents will bury their child before his/her fifth birthday.
Whether a rare genetic disorder claims a life sooner, or later, whether its effect is serious or devastating, its impact on the life of the diagnosee has several universal components which Helm covers nicely. Fear, Hopelessness. Lack of control. Grief. Confusion. Isolation.
All too often in the 'world of Rare Disease,' patients (and parents) are left to fend for themselves. The moment of diagnosis can range from shell-shock to an intial sense of relief that the 'diagnostic odyssey' has ended. No matter the reaction, at that moment, life is altered on many levels. A new reality has just begun. Many rare diseases, due to their inherent rarity, have no organizational framework, many have no established support groups. More than 90% of Rare Diseases have no recognized treatment, and virtually none have outright cures. Helm makes the case, and he is spot-on, that an interventional system does exist in many cases, and must exist in all, to address the needs of patient (parents) during this time: genetic counseling. From explanation of test results to an initial emotional and psychosocial safety net to referral for a range of follow-up services, the role of genetic counselor must not be underestimated.
"Genetic counseling means communicating genetic information in a meaningful way to patients. But it does not just mean having a conversation that happens to involve genetic information; it goes much further than that. Genetic counseling is a process of “helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease.” It involves a person-centered approach where the genetic counselor helps the patient to incorporate the genetic information into their lives, adjust to it, rationalize it, think through how they want to act on it..."
"Genetic counseling is frequently an emotional process; the patient may come for genetic counseling at one of the most vulnerable moments in their life, an event caused by a faulty gene may result in grief (“my husband has suddenly died”), loss (“my child has a neurodegenerative condition”), or crippling fear (“I'm frightened I will develop the cancer running through my family.”) Helping patients in that moment, and being emotionally congruent as they discuss the impact of the genetic event, is at the heart of what genetic counselors and clinical geneticists do.
While "Genetic counselors and Genomic Counseling in the United Kingdom" provides valuable insight into counseling during the 'genetic journey,' what makes it unique and truly impactful is its addressing of the topic in the context of the transition from the Genetic to Genomic Age. The following chart from the article visually encapsulates the many complexities inherent in the addition of Genomics to the standard genetic repertoire which currently exists:
With the Genomics Revolution going in the words of one of its most noted and venerated pioneers, J. Craig Venter, "From zero to a thousand miles-an-hour very quickly" it seems as if technology in the form of sequencing, data compilation, and data mining, could be outpacing one of the most theoretically humanistic components of Genomic Medicine...counseling of patients.
In perhaps the broadest survey yet of patient perspectives of genomic testing, 'My Condition, My DNA,' one thing is made eminently clear: patients themselves have expectations of care, and one of the most striking is: "Patients value genetic counseling and are keen for the support of genetic counselors before and after genome sequencing." This is the expressed view of a consensus of testees, and one which must be met professionally and competently whether test results return 'normal,' 'incidental,' or with 'bad genetic news.'
Genomic testing with each passing year will become more and more a standard part of the medical 'menu of services.' For adults, For children. For newborns. In large-scale programs such as the 100,000 Genomes Project and the US Precision Medicine Initiative which proposes the sequencing of 1 million patients in the coming decade. For Rare Disease patients. For cancer patients. Just this week, Australia and Israel announced intentions of their own to begin major Genome sequencing programs and the proliferation of sequencing is expected to increase and spread exponentially. Back to J. Craig Venter who estimates (some say conservatively) that the number of human genomes sequenced could reach 5 million by the year 2020. Considering the percentage of individuals with one of the ~7,000 rare genetic disorders among the general population is 8-10%, and the fact that many who would have gone undiagnosed in a pre-Genomics landscape will no longer fall between the cracks, diagnostic rates could skyrocket. Add in cancer cases and one can imagine a vast increase of new individuals in the diagnosis-to-care continuum.
Dr. Francis Collins, Director of the National Institutes of Health, and himself one of Genomics' pioneers, stated eloquently in a recent speech at the Future of Genomic Medicine conference, "Patients can not be allowed to be lost in the flood of coming genomic data."
This can be ensured only by bringing a patient-centered, humanistic approach to Genomic Medicine. 'Genomic Counseling,' holistic, comprehensive in nature, and as a well-defined intervention and profession must be a centerpiece of this new era. Patients being delivered life-altering diagnoses must not be allowed to face the process without this invaluable, empowering resource. Having spoken with hundreds upon hundreds of Rare Disease and "genetic cancer" patients who have undergone Genetic Counseling, I have yet to hear a single one describe the process as 'a waste of time,' 'useless,' 'redundant' or 'dispensable.' On the contrary, a vast majority describe it as one of the most positive, impactful, and worthwhile experiences of their genetic journeys.
In my opinion, those seeking genome sequencing should, from an ethical standpoint, be referred only to institutions which ensure access to professional, high-level counseling, and regulatory pressure should be brought to bear upon testing companies which offer no access to counseling at all.
While almost daily headlines of breakthroughs in Genomics are now standard - new biomarkers, new diagnosees, new disorders identified, faster and faster sequencing - 'Genomic Counseling' remains one of the least talked about and most neglected areas of the present and coming medical revolution.
Much discussion is needed and much work remains to be done.