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There Are Benefits to Genetic Counseling

Dear Dr. Roach: The answer to J.P. needs to address the strong family history of breast cancer. She should be referred to a genetic counselor to determine whether she needs to be screened for BRCA I or II. — J.T.

Answer: J.P. wrote in December about the safety of vaginal estrogen, and noted that she’d had “a grandmother, aunt, sister (both breasts) and now a first cousin with breast cancer.”

It indeed sounds like her family history would qualify her as having an increased risk for developing breast or ovarian cancer associated with BRCA1 or BRCA2 mutations. The United States Preventive Services Task Force has recommended genetic counseling for women at increased genetic risk.

There are several benefits from testing for BRCA status. The results allow the physician to better estimate risk for future breast and ovarian cancers, which in turn can inform the decision as to medication or surgery to reduce risk of breast cancer. Secondly, the information can be of benefit to family members. Thirdly, knowing the results can reduce anxiety.

Potential harms of genetic testing need to be considered. The USPSTF says: “Routine referral for genetic counseling and consideration of BRCA1 and BRCA2 testing clearly has important psychological, ethical, legal, and social implications, although they are not well quantified in the literature.”

The younger one is, the greater the personal benefit to knowing genetic risk. However, even for an older person, it may be worthwhile to know their genetic risk, especially for family members.

Dear Dr. Roach : How long do shin splints last? Is there anything besides ice that will make them go away faster? My left shin started hurting a little more than three weeks ago, and I ran once or twice on it, then I stopped, but it still hurts. Is this normal? When do you think I can run on it? I don’t think it was increasing my distance that did it, but I did a longer run on a flat path, and normally I do it with hills, so I thought maybe that was the problem -- but three weeks seems like too long. — H.O.

Answer: Pain in the shin bone (tibia) is common in runners, but the hard part is distinguishing between “shin splints,” properly called “medial tibial stress syndrome,” and a stress fracture of the tibia. A stress fracture usually has a discrete area of tenderness, but MTSS has more diffuse tenderness. An X-ray may be needed to be sure it isn’t a stress fracture, since the treatment is very different. A runner with a stress fracture needs to avoid impact activities like running, whereas MTSS usually gets better with just lower running mileage.

In your case, the degree of pain is higher than I would expect after three weeks. I’d recommend an X-ray.

Dear Dr. Roach: After two years of seeing several doctors and being misdiagnosed and treated with wrong medications, my 27-year-old daughter has been diagnosed with psoriatic arthritis. Her joint pain has been constant during this time. What kind of long-term damage has been done during this time? — A.F.

Answer: Psoriasis is a common inflammatory skin condition, with well-known plaques — raised red patches with silvery scales or flaked skin — most commonly seen over the elbows, knees or on the back. Only a minority of people with psoriasis will ever develop psoriatic arthritis, but you have to have psoriasis to get psoriatic arthritis. Sometimes, the arthritis shows up before the skin lesions, making the diagnosis difficult.

Unfortunately, damage to the joints can happen early in the course of psoriatic arthritis, but only an X-ray can show the extent of damage. Your daughter may need aggressive treatment. A rheumatologist experienced in psoriatic arthritis is essential.

Dr. Roach regrets that he is unable to answer individual letters, but will incorporate them in the column whenever possible. Readers may email questions to ToYourGoodHealth@med.cornell.edu or write to P.O. Box 536475, Orlando, FL 32853-6475.