Michael S. Stahler, Ph.D., MBA, EMB
EmbryoWorks, Inc
“To see this gorgeous little boy larking about at the family’s home in Chesterville, it is incomprehensible that within a few years he will be severely incapacitated. As Randy, speaking six months after the diagnosis, puts it so heartrendingly: ‘I look at Jeffrey playing with his toys, and I can’t believe that soon he will start falling over a bit more, then he will lose the use of his legs and be in a wheelchair. Then he won’t be able to use his arms. He may need spinal rods to keep him upright and ventilation to help him breathe. Eventually, his heart and lungs will fail and he will die. I never knew that a condition existed that could destroy our son before our very eyes. How can a parent take that in? The doctors had told the couple not to go home and bury themselves in books because the condition is incurable. “From www Dailymail.co.uk (The names have been changed to afford the family privacy)
Heart wrenching no doubt to read, or worse know or be a family who is in this very same situation in regards to the well being of their child. Whether it’s Duchenne’s, Tay-Sach (TS), Hurler Syndrome (HS), Andermann Syndrome (AS), Cystic Fibrosis (CF), Canavan Disease (CD), Down’s Syndrome or countless other inherited genetic diseases, all take a toll on the families and affected child(ren). There is no easy or simple way to extract and understand the emotional toll of raising a child with one of these dreadful genetic diseases. Countless hours of sadness, worry, guilt, anger, hope, prayer, joy and heartbreak are all part and parcel of the emotions that are felt with the care and love of an affected child. In addition to the huge emotional impact on parents, most times caring for an affected child pose a significant financial burden on the families as well. Typically families will encounter expenses that arise from non-covered portions of hospital services, home health care, medications and medical/office visits and other items. This does not include the cost of such things as modifications to homes (wheelchair ramps), transportation (special vans) and other non-medical related items.
The clinical application of pre-implantation genetic screening (PGS) as an adjunct to a routine assisted reproductive technology (A.R.T.) procedure has enabled couples, regardless of fertility status, who are genetically at risk to conceive and give birth to children unaffected by one of these significant genetic diseases. These advanced technologies provide such couples a choice in regards to this particular aspect of their future child’s health. The choice of whether to risk the odds of “natural” conception or proceed with conception utilizing ART/PGS technologies to minimize the risk of giving birth to an affected child is based on numerous factors and highly personal. But the economics of ART/PGS needs to be put into financial perspective compared to the costs of raising an affected child. The use of such technologies towards conception is a choice and has been under much scrutiny not the least of which has been it financial expense.
In considering such an option couples have often been put off by the additional cost of utilizing A.R.T./PGS to achieve the birth of an unaffected child. Certainly there are costs to consider when conceiving through the use of A.R.T. but there are also significant costs to raising a child with a severe genetic diseases or syndrome, some quite considerable. An average A.R.T./PGS cycle costs about $20,000 inclusive of medications, A.R.T. cycle, Intracytoplasmic sperm injection (ICSI) and PGS1. Nationally the live birth rates/retrieval from an ART procedure average between 35% – 43% (depending on the female patient’s age at the time of the procedure)2. Utilizing these averages and assuming worst case scenario (no conception in the first attempt) it can be safely assumed that it may take two (2) ART/PGS cycles to conceive and achieve the live birth of an unaffected child. In this situation the total cost rises to $40, 000 (this does not take into consideration the option of a frozen embryo cycle). This value represents the maximum amount a couple would pay out of pocket for their ART cycle assuming it was not covered in part or whole by insurance. Often times, insurance coverage will pay for certain elements of the ART cycle including medications and office visits thus potentially reducing the out of pocket expenses by $2,000 –5,000.
What, on the other hand, is the average cost of raising a child with a significant genetic disease or syndrome? The determination of an exact cost in these situations is not always easy or possible to calculate with certainty. But some scope of the cost can be ascertained from the literature. For example the life of expectancy of a child born with CF is highly variable depending on the severity of the disease, but the current estimated average is 35 years old3. The direct costs associated with the care of a CF affected child amount to between $9,200- $24,000 (adjusted for inflation to today’s dollars) per patient per year4. As most assessments likely underestimated the actual costs (e.g. by disregarding provision of certain healthcare services), real healthcare costs tend to be at the upper end of this cost range. Specific healthcare needs of CF individuals are dependent on several factors including the patient's age where costs are approximately twice as high for older CF patients then younger patients. BAsed on the averages above the lifetime estimated direct costs of CF are between $300,000 - $400,0005
In the case of an individual stricken with Duchenne’s Muscular Dystrophy (DMD) nearly all affected individuals eventually present with severe respiratory and cardiac complications and the average life expectancy for these affected individuals is 19 years6. It is estimated that the incremental annual expenditures of medical care for families with an affected DMD individual (relative to non-DMD families) averages $18,930 (range $13,464 to $32 541)7. Individuals with muscular dystrophy have on average medical expenditures that are 10 to 30 times greater than individuals without muscular dystrophy resulting in an average lifetime additional cost between $380,000-450,00.
Other inherited diseases also have significant incremental costs associated with their care. Individuals stricken with Neiman-Pick disease can average nearly $50,000/year additional medical costs8. While lifetime costs vary with the type of Neiman-Pick disease the individual has, the average lifetime costs are between $3,000 (Type A) to $1,900,000 (Types C & B). In cases of individuals affected with Spinal Muscular Atrophy the lifetime costs for severe and mild disease are approximately $322,126 (range $50,000-$2,000,000) and $819,762 (range $500,000-$3,000,000), respectively. Individuals with severe SMA typically survive only 6-18 months after birth while those with a lesser form of the can disease survive longer.
There are numerous other inherited genetic diseases some more, other less, severe than the ones described here. Many of these diseases now have genetic probes available that can now be used with PGS to detected unaffected embryos and use these embryos for an opportunity at conception with an unaffected child. It is obvious from this brief discussion that the costs of caring for and raising a child with inherited diseases can be quite substantial and often times 10-40 times more costly then the use of ART/PGS to prevent conception of an affected child. Of course economic considerations are not the only factor that goes into the decision to conceive a child or not, a subject for a future article. However, the concern or argument that ART is an expensive way to conceive a healthy child or simply a matter of added revenue for ART center is short sighted and incorrect. The fact is that ART/PGS does provide a true economic and medical alternative for genetically at risk families to conceive a healthy. ART/PGS is not for everyone and may dependent on a couple’s religious, moral and ethical values. However, ART/PGS can provide for a far more economical (compared to lifetime costs) and safe alternative for conception of an unaffected child compared to the impacts of raising an affected child through natural conception for many of these inherited genetic diseases.
REFERENCES
- The Cost of Infertility Treatment. Summer 2006, Resolve www.resolve.org
- National Data Summary, 2011, SART, www.sart.com
- Pinkerton, K. 2009. “Cystic Fibrosis Life Expectancy Statistics”, Cystic Fibrosis Society.
- Lieu, T et al., 1999. “The Cost of Medical Care for Patients With Cystic Fibrosis in a Health Maintenance Organization
- Krauth, C, et al., 2003. “Cystic fibrosis: cost of illness and considerations for the economic evaluation of potential therapies.” Pharmacoeconomics 21(4):1001, 2003).
- Bushby, K, et al., 2005. “The multidisciplinary management of Duchenne Muscular Dystrophy.” Current Paediatrics 15, 292).
- Ouyang, , 2008. Health Care Utilization and Expenditures for Children and Young Adults With Muscular Dystrophy in a Privately Insured Population. J Child Neurol, August 23 (8) 883,.
- Imrie, J, 2009. Cost of Illness Associated with Neiman-Pick Disease Type C, J, of Medical Economics.