Medicare to reimburse genetic testing for AMD

One clinician believes this ruling could result in a new standard of care.

Age-related macular degeneration is the leading cause of blindness in the U.S. and Canada, and any scientific approach to reduce the cases of blindness should be taken seriously by clinicians.

The major controversy in AMD management over the last several years has been the role of genetic testing. Carl C. Awh, MD, and colleagues in 2013 published a study in a highly respected journal that was based upon the genetic analysis of nearly 1,000 subjects with intermediate AMD in the original Age-Related Eye Disease Study (AREDS).

The most important finding was that patients with a specific genetic profile (two high-risk CFH alleles and low-risk ARMS2 alleles) progressed to advanced AMD more frequently if they were taking the AREDS eye formulation (antioxidants plus zinc) than if they were taking a placebo. Those taking only zinc (80 mg) also advanced more frequently than did those in the placebo group. In contrast, patients did benefit from zinc alone or AREDs formulation if they had a different genetic profile. Although the National Eye Institute disputed these findings, others (Seddon et al.) have confirmed them.

Jerome Sherman

Coverage began in July

CMS recently reviewed all the available data and concluded that genetic testing was helpful in determining which patients should be taking the AREDS formula containing zinc and which patients are zinc sensitive and should be taking an AREDS formulation without zinc. CMS will now cover genetic testing for patients with AMD, beginning with services performed on or after July 10, 2017. It is highly probable that private insurance companies will follow the lead of CMS and also cover AMD genetic testing. Many find this remarkable in that one federal agency, the CMS, decided to overrule another, the NEI.

With many millions of elderly Americans taking the AREDS formulation, and with a reported 13% to 19% who are zinc-sensitive, it is not surprising that some have been and are being harmed by the AREDS formulation. The following case exemplifies this problem.

Case report

A 69-year-old female was under the care of a general ophthalmologist for AMD. Her uncorrected visual acuity was 20/20 in each eye. She had several large, soft drusen (drusenoid pigment epithelium detachments) in each eye. All other findings were normal except for grade 1 nuclear cataracts.

She was diagnosed with intermediate AMD and was advised to take the AREDS formulation daily and return in a year for a follow-up visit. Genetic testing was not discussed with the patient. She was told to return sooner if her vision changed.

A second visit took place about a year later and failed to demonstrate any change. About 9 months later when on a cruise, the patient noted blurred vision in her right eye. After the cruise, she called for an appointment and was seen several days later. The exam revealed the visual acuity in her right eye had dropped to 20/50 due to hemorrhagic choroidal neovascularization. She was referred to a retinal specialist in this large group practice and was treated with anti-VEGF injections nearly monthly over the next year. She continued taking the AREDS formulation as instructed.

About 14 months after the conversion of dry AMD to wet in the right eye, the left eye converted as well. While under the care of the retinal specialist for treatment in both eyes, the patient searched the literature and came across the controversy of genetic testing. She then found a doctor who performs the genetic test for AMD.

Her genetic profile (two high-risk CFH alleles and low-risk ARMS 2 alleles) was precisely the one that predicts a more rapid progression of her dry AMD to wet if zinc is ingested. The lab results of her genetic test stated: “Vitamin recommendation based upon CFH and ARMS2 genotyping: AREDS without zinc.”

The patient was furious that she was never offered the noninvasive cheek swab genetic test initially and that her doctors told her to continue the AREDS formulation even after her right eye converted from dry AMD to wet. She subjectively complains of blurred and distorted vision. Her most recent best-corrected visual acuity was 20/100 and 20/50. As recommended most recently, she takes a product containing lutein, zeaxanthin and mesozeaxanthin with no additional zinc.

Patient files lawsuit

A lawsuit ensued. Questions related to prevailing standard of care were raised. Without doubt, there are more eye clinicians who do not obtain genetic analysis than those who do in patients with AMD. Hence, one could argue that the doctors met the existing standard of care at the time the care was rendered.

The case was settled for an undisclosed amount even before depositions were taken. The physicians did not want the publicity, and the patient realized that the doctors did meet the standard of care. If the case went to trial, it is possible that a culpable verdict would have resulted in a change in the standard of care.

Of interest, the ruling of CMS to cover genetic testing will most likely result in large numbers of clinicians using the genetic test, and this could result in a new standard of care.

Disclosures: Sherman has lectured for, received honorarium from or consulted with ArcticDx, Annidis, Carl Zeiss Meditec, DGH, Diopsys, Eye Solutions, Heidelberg, MacuHealth, Optos, Optovue, PHP, Quantel and Topcon.

Age-related macular degeneration is the leading cause of blindness in the U.S. and Canada, and any scientific approach to reduce the cases of blindness should be taken seriously by clinicians.

The major controversy in AMD management over the last several years has been the role of genetic testing. Carl C. Awh, MD, and colleagues in 2013 published a study in a highly respected journal that was based upon the genetic analysis of nearly 1,000 subjects with intermediate AMD in the original Age-Related Eye Disease Study (AREDS).

The most important finding was that patients with a specific genetic profile (two high-risk CFH alleles and low-risk ARMS2 alleles) progressed to advanced AMD more frequently if they were taking the AREDS eye formulation (antioxidants plus zinc) than if they were taking a placebo. Those taking only zinc (80 mg) also advanced more frequently than did those in the placebo group. In contrast, patients did benefit from zinc alone or AREDs formulation if they had a different genetic profile. Although the National Eye Institute disputed these findings, others (Seddon et al.) have confirmed them.

Jerome Sherman

Coverage began in July

CMS recently reviewed all the available data and concluded that genetic testing was helpful in determining which patients should be taking the AREDS formula containing zinc and which patients are zinc sensitive and should be taking an AREDS formulation without zinc. CMS will now cover genetic testing for patients with AMD, beginning with services performed on or after July 10, 2017. It is highly probable that private insurance companies will follow the lead of CMS and also cover AMD genetic testing. Many find this remarkable in that one federal agency, the CMS, decided to overrule another, the NEI.

With many millions of elderly Americans taking the AREDS formulation, and with a reported 13% to 19% who are zinc-sensitive, it is not surprising that some have been and are being harmed by the AREDS formulation. The following case exemplifies this problem.

Case report

A 69-year-old female was under the care of a general ophthalmologist for AMD. Her uncorrected visual acuity was 20/20 in each eye. She had several large, soft drusen (drusenoid pigment epithelium detachments) in each eye. All other findings were normal except for grade 1 nuclear cataracts.

She was diagnosed with intermediate AMD and was advised to take the AREDS formulation daily and return in a year for a follow-up visit. Genetic testing was not discussed with the patient. She was told to return sooner if her vision changed.

A second visit took place about a year later and failed to demonstrate any change. About 9 months later when on a cruise, the patient noted blurred vision in her right eye. After the cruise, she called for an appointment and was seen several days later. The exam revealed the visual acuity in her right eye had dropped to 20/50 due to hemorrhagic choroidal neovascularization. She was referred to a retinal specialist in this large group practice and was treated with anti-VEGF injections nearly monthly over the next year. She continued taking the AREDS formulation as instructed.

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About 14 months after the conversion of dry AMD to wet in the right eye, the left eye converted as well. While under the care of the retinal specialist for treatment in both eyes, the patient searched the literature and came across the controversy of genetic testing. She then found a doctor who performs the genetic test for AMD.

Her genetic profile (two high-risk CFH alleles and low-risk ARMS 2 alleles) was precisely the one that predicts a more rapid progression of her dry AMD to wet if zinc is ingested. The lab results of her genetic test stated: “Vitamin recommendation based upon CFH and ARMS2 genotyping: AREDS without zinc.”

The patient was furious that she was never offered the noninvasive cheek swab genetic test initially and that her doctors told her to continue the AREDS formulation even after her right eye converted from dry AMD to wet. She subjectively complains of blurred and distorted vision. Her most recent best-corrected visual acuity was 20/100 and 20/50. As recommended most recently, she takes a product containing lutein, zeaxanthin and mesozeaxanthin with no additional zinc.

Patient files lawsuit

A lawsuit ensued. Questions related to prevailing standard of care were raised. Without doubt, there are more eye clinicians who do not obtain genetic analysis than those who do in patients with AMD. Hence, one could argue that the doctors met the existing standard of care at the time the care was rendered.

The case was settled for an undisclosed amount even before depositions were taken. The physicians did not want the publicity, and the patient realized that the doctors did meet the standard of care. If the case went to trial, it is possible that a culpable verdict would have resulted in a change in the standard of care.

Of interest, the ruling of CMS to cover genetic testing will most likely result in large numbers of clinicians using the genetic test, and this could result in a new standard of care.

Disclosures: Sherman has lectured for, received honorarium from or consulted with ArcticDx, Annidis, Carl Zeiss Meditec, DGH, Diopsys, Eye Solutions, Heidelberg, MacuHealth, Optos, Optovue, PHP, Quantel and Topcon.